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PedAM

Pediatric Disease Annotations & Medicines



   pulmonary disease, chronic obstructive
  

Disease ID 1888
Disease pulmonary disease, chronic obstructive
Synonym
not otherwise specified
#NAME?
airway small disease
airways diseases small
cafl - chronic airflow limitation
cal - chronic airflow limitation
chronic airflow limitation
chronic airway disease
chronic airway obstruction
chronic airways disease
chronic irreversible airway obstruction
chronic obstructive airway dis
chronic obstructive airway disease
chronic obstructive airways disease
chronic obstructive airways disease nos
chronic obstructive airways disease nos (disorder)
chronic obstructive lung dis
chronic obstructive lung disease
chronic obstructive lung disease (disorder)
chronic obstructive lung disease [ambiguous]
chronic obstructive lung disease, nos
chronic obstructive pulm dis
chronic obstructive pulmonary disease
chronic obstructive pulmonary disease (copd)
chronic obstructive pulmonary disease finding
chronic obstructive pulmonary disease finding (finding)
chronic obstructive pulmonary disease nos
chronic obstructive pulmonary disease, (copd)
coad
coad - chronic obstructive airways disease
cold (chronic obstructive lung disease)
cold - chronic obstructive lung disease
copd
copd - chronic obstructive pulmonary disease
copd nos
copd, chronic obstructive pulmonary disease
disease (copd), chronic obstructive
hyperactive airway disease
obstructive pulmonary disease (copd), chronic
pulm dis chronic obstructive
pulmonary disease (copd), chronic obstructive
pulmonary disease, chronic obstructive [disease/finding]
small airway disease
small airways disease
OMIM
DOID
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:50)
TNF  |  7124  |  CTD_human
NOS3  |  4846  |  CTD_human
TP53  |  7157  |  CTD_human
TGFB1  |  7040  |  CTD_human
EPHX1  |  2052  |  CTD_human
FAM13A  |  10144  |  CTD_human;GWASCAT
MMP1  |  4312  |  CTD_human
HMOX1  |  3162  |  CTD_human
MMP9  |  4318  |  CTD_human
TRPV4  |  59341  |  CTD_human
NOS2  |  4843  |  CTD_human
FAM19A2  |  338811  |  GWASCAT
HLA-C  |  3107  |  GWASCAT
SOD3  |  6649  |  CTD_human
SFTPD  |  6441  |  GWASCAT
TGFB2  |  7042  |  GWASCAT
CSMD1  |  64478  |  GWASCAT
SERPINA1  |  5265  |  CTD_human
HTR2A  |  3356  |  CTD_human
CHRNA3  |  1136  |  GWASCAT
SCGB1A1  |  7356  |  GWASCAT
ANXA11  |  311  |  GWASCAT
CHRNA5  |  1138  |  GWASCAT
TNNT2  |  7139  |  CTD_human
CD8A  |  925  |  CTD_human
SCLT1  |  132320  |  GWASCAT
CYP1A1  |  1543  |  CTD_human
CYS1  |  192668  |  GWASCAT
HDAC2  |  3066  |  CTD_human
RAPGEF3  |  10411  |  CTD_human
CFAP221  |  200373  |  GWASCAT
CXCL8  |  3576  |  CTD_human
MIR99AHG  |  388815  |  GWASCAT
PSORS1C2  |  170680  |  GWASCAT
PSORS1C1  |  170679  |  GWASCAT
ASRGL1  |  80150  |  GWASCAT
RIN3  |  79890  |  GWASCAT
TMEM254  |  80195  |  GWASCAT
HYKK  |  123688  |  GWASCAT
MIA-RAB4B  |  100529262  |  GWASCAT
MMP14  |  4323  |  CTD_human
CYP1A2  |  1544  |  CTD_human
IREB2  |  3658  |  GWASCAT
ATP2C2  |  9914  |  GWASCAT
CD151  |  977  |  GWASCAT
RAB4B-EGLN2  |  100529264  |  GWASCAT
CRACR2B  |  283229  |  GWASCAT
DLG2  |  1740  |  GWASCAT
RNF150  |  57484  |  GWASCAT
NUPL2  |  11097  |  GWASCAT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:442)
19  |  ABCA1  |  infer
23461  |  ABCA5  |  infer
23460  |  ABCA6  |  infer
10347  |  ABCA7  |  infer
5243  |  ABCB1  |  infer
8647  |  ABCB11  |  infer
4363  |  ABCC1  |  infer
1244  |  ABCC2  |  infer
10257  |  ABCC4  |  infer
1636  |  ACE  |  infer
126  |  ADH1C  |  infer
153  |  ADRB1  |  infer
154  |  ADRB2  |  infer
196  |  AHR  |  infer
57491  |  AHRR  |  infer
10327  |  AKR1A1  |  infer
8644  |  AKR1C3  |  infer
1109  |  AKR1C4  |  infer
207  |  AKT1  |  infer
210  |  ALAD  |  infer
10840  |  ALDH1L1  |  infer
217  |  ALDH2  |  infer
239  |  ALOX12  |  infer
246  |  ALOX15  |  infer
240  |  ALOX5  |  infer
23600  |  AMACR  |  infer
275  |  AMT  |  infer
317  |  APAF1  |  infer
324  |  APC  |  infer
328  |  APEX1  |  infer
336  |  APOA2  |  infer
337  |  APOA4  |  infer
338  |  APOB  |  infer
348  |  APOE  |  infer
397  |  ARHGDIB  |  infer
405  |  ARNT  |  infer
472  |  ATM  |  infer
482  |  ATP1B2  |  infer
6790  |  AURKA  |  infer
8313  |  AXIN2  |  infer
578  |  BAK1  |  infer
580  |  BARD1  |  infer
581  |  BAX  |  infer
604  |  BCL6  |  infer
613  |  BCR  |  infer
635  |  BHMT  |  infer
330  |  BIRC3  |  infer
641  |  BLM  |  infer
672  |  BRCA1  |  infer
675  |  BRCA2  |  infer
83990  |  BRIP1  |  infer
799  |  CALCR  |  infer
843  |  CASP10  |  infer
836  |  CASP3  |  infer
841  |  CASP8  |  infer
842  |  CASP9  |  infer
846  |  CASR  |  infer
847  |  CAT  |  infer
857  |  CAV1  |  infer
873  |  CBR1  |  infer
874  |  CBR3  |  infer
875  |  CBS  |  infer
6352  |  CCL5  |  infer
890  |  CCNA2  |  infer
595  |  CCND1  |  infer
896  |  CCND3  |  infer
902  |  CCNH  |  infer
729230  |  CCR2  |  infer
1232  |  CCR3  |  infer
1234  |  CCR5  |  infer
929  |  CD14  |  infer
920  |  CD4  |  infer
958  |  CD40  |  infer
941  |  CD80  |  infer
975  |  CD81  |  infer
942  |  CD86  |  infer
993  |  CDC25A  |  infer
994  |  CDC25B  |  infer
995  |  CDC25C  |  infer
999  |  CDH1  |  infer
1019  |  CDK4  |  infer
1020  |  CDK5  |  infer
1022  |  CDK7  |  infer
1027  |  CDKN1B  |  infer
1028  |  CDKN1C  |  infer
1029  |  CDKN2A  |  infer
1071  |  CETP  |  infer
3075  |  CFH  |  infer
1080  |  CFTR  |  infer
1081  |  CGA  |  infer
1111  |  CHEK1  |  infer
1136  |  CHRNA3  |  infer
1137  |  CHRNA4  |  infer
1138  |  CHRNA5  |  infer
80781  |  COL18A1  |  infer
1312  |  COMT  |  infer
1401  |  CRP  |  infer
1436  |  CSF1R  |  infer
1437  |  CSF2  |  infer
1440  |  CSF3  |  infer
1477  |  CSTF1  |  infer
1491  |  CTH  |  infer
1493  |  CTLA4  |  infer
1499  |  CTNNB1  |  infer
1512  |  CTSH  |  infer
8452  |  CUL3  |  infer
1524  |  CX3CR1  |  infer
1535  |  CYBA  |  infer
1536  |  CYBB  |  infer
1586  |  CYP17A1  |  infer
1588  |  CYP19A1  |  infer
1543  |  CYP1A1  |  infer
1544  |  CYP1A2  |  infer
1545  |  CYP1B1  |  infer
1591  |  CYP24A1  |  infer
1594  |  CYP27B1  |  infer
1557  |  CYP2C19  |  infer
1565  |  CYP2D6  |  infer
1571  |  CYP2E1  |  infer
1551  |  CYP3A7  |  infer
9420  |  CYP7B1  |  infer
1672  |  DEFB1  |  infer
27294  |  DHDH  |  infer
1719  |  DHFR  |  infer
1733  |  DIO1  |  infer
202052  |  DNAJC18  |  infer
1812  |  DRD1  |  infer
1813  |  DRD2  |  infer
1815  |  DRD4  |  infer
1906  |  EDN1  |  infer
1950  |  EGF  |  infer
1956  |  EGFR  |  infer
2022  |  ENG  |  infer
2052  |  EPHX1  |  infer
2053  |  EPHX2  |  infer
2064  |  ERBB2  |  infer
2067  |  ERCC1  |  infer
2068  |  ERCC2  |  infer
2071  |  ERCC3  |  infer
2072  |  ERCC4  |  infer
2073  |  ERCC5  |  infer
2074  |  ERCC6  |  infer
2099  |  ESR1  |  infer
2100  |  ESR2  |  infer
9156  |  EXO1  |  infer
7430  |  EZR  |  infer
10144  |  FAM13A  |  infer
2175  |  FANCA  |  infer
355  |  FAS  |  infer
356  |  FASLG  |  infer
55294  |  FBXW7  |  infer
2335  |  FN1  |  infer
2353  |  FOS  |  infer
2296  |  FOXC1  |  infer
2524  |  FUT2  |  infer
8324  |  FZD7  |  infer
2625  |  GATA3  |  infer
2638  |  GC  |  infer
9518  |  GDF15  |  infer
8836  |  GGH  |  infer
2690  |  GHR  |  infer
2876  |  GPX1  |  infer
2877  |  GPX2  |  infer
2878  |  GPX3  |  infer
2879  |  GPX4  |  infer
2932  |  GSK3B  |  infer
2941  |  GSTA4  |  infer
2944  |  GSTM1  |  infer
9446  |  GSTO1  |  infer
119391  |  GSTO2  |  infer
2950  |  GSTP1  |  infer
2952  |  GSTT1  |  infer
2954  |  GSTZ1  |  infer
2993  |  GYPA  |  infer
3030  |  HADHA  |  infer
3077  |  HFE  |  infer
64399  |  HHIP  |  infer
55662  |  HIF1AN  |  infer
3106  |  HLA-B  |  infer
3156  |  HMGCR  |  infer
3162  |  HMOX1  |  infer
3292  |  HSD17B1  |  infer
3294  |  HSD17B2  |  infer
3295  |  HSD17B4  |  infer
3283  |  HSD3B1  |  infer
3284  |  HSD3B2  |  infer
26353  |  HSPB8  |  infer
3351  |  HTR1B  |  infer
3352  |  HTR1D  |  infer
3356  |  HTR2A  |  infer
3364  |  HUS1  |  infer
3383  |  ICAM1  |  infer
3455  |  IFNAR2  |  infer
3459  |  IFNGR1  |  infer
3460  |  IFNGR2  |  infer
3479  |  IGF1  |  infer
3480  |  IGF1R  |  infer
3481  |  IGF2  |  infer
3482  |  IGF2R  |  infer
3483  |  IGFALS  |  infer
3484  |  IGFBP1  |  infer
3485  |  IGFBP2  |  infer
3486  |  IGFBP3  |  infer
3488  |  IGFBP5  |  infer
3489  |  IGFBP6  |  infer
3586  |  IL10  |  infer
3587  |  IL10RA  |  infer
3592  |  IL12A  |  infer
3593  |  IL12B  |  infer
3596  |  IL13  |  infer
3600  |  IL15  |  infer
3601  |  IL15RA  |  infer
3552  |  IL1A  |  infer
3553  |  IL1B  |  infer
3557  |  IL1RN  |  infer
3558  |  IL2  |  infer
3562  |  IL3  |  infer
3565  |  IL4  |  infer
3566  |  IL4R  |  infer
3570  |  IL6R  |  infer
3575  |  IL7R  |  infer
3643  |  INSR  |  infer
3658  |  IREB2  |  infer
3659  |  IRF1  |  infer
3661  |  IRF3  |  infer
3667  |  IRS1  |  infer
3718  |  JAK3  |  infer
3845  |  KRAS  |  infer
25984  |  KRT23  |  infer
3931  |  LCAT  |  infer
3949  |  LDLR  |  infer
3952  |  LEP  |  infer
3953  |  LEPR  |  infer
3978  |  LIG1  |  infer
3980  |  LIG3  |  infer
3990  |  LIPC  |  infer
9516  |  LITAF  |  infer
4005  |  LMO2  |  infer
25802  |  LMOD1  |  infer
4023  |  LPL  |  infer
4041  |  LRP5  |  infer
4040  |  LRP6  |  infer
4049  |  LTA  |  infer
5648  |  MASP1  |  infer
9782  |  MATR3  |  infer
8932  |  MBD2  |  infer
8930  |  MBD4  |  infer
4153  |  MBL2  |  infer
4193  |  MDM2  |  infer
4232  |  MEST  |  infer
4233  |  MET  |  infer
4255  |  MGMT  |  infer
114614  |  MIR155HG  |  infer
4292  |  MLH1  |  infer
4312  |  MMP1  |  infer
4321  |  MMP12  |  infer
4313  |  MMP2  |  infer
4318  |  MMP9  |  infer
9526  |  MPDU1  |  infer
4353  |  MPO  |  infer
55686  |  MREG  |  infer
4436  |  MSH2  |  infer
4437  |  MSH3  |  infer
2956  |  MSH6  |  infer
4481  |  MSR1  |  infer
10797  |  MTHFD2  |  infer
4524  |  MTHFR  |  infer
4548  |  MTR  |  infer
4552  |  MTRR  |  infer
4599  |  MX1  |  infer
4605  |  MYBL2  |  infer
4609  |  MYC  |  infer
55892  |  MYNN  |  infer
4644  |  MYO5A  |  infer
4683  |  NBN  |  infer
4688  |  NCF2  |  infer
8202  |  NCOA3  |  infer
4790  |  NFKB1  |  infer
4794  |  NFKBIE  |  infer
4814  |  NINJ1  |  infer
64127  |  NOD2  |  infer
4843  |  NOS2  |  infer
4846  |  NOS3  |  infer
1728  |  NQO1  |  infer
9971  |  NR1H4  |  infer
4682  |  NUBP1  |  infer
10101  |  NUBP2  |  infer
4948  |  OCA2  |  infer
4968  |  OGG1  |  infer
4985  |  OPRD1  |  infer
4988  |  OPRM1  |  infer
5027  |  P2RX7  |  infer
56924  |  PAK6  |  infer
142  |  PARP1  |  infer
143  |  PARP4  |  infer
5111  |  PCNA  |  infer
58488  |  PCTP  |  infer
55825  |  PECR  |  infer
5241  |  PGR  |  infer
5245  |  PHB  |  infer
5292  |  PIM1  |  infer
5300  |  PIN1  |  infer
5320  |  PLA2G2A  |  infer
8398  |  PLA2G6  |  infer
5347  |  PLK1  |  infer
5378  |  PMS1  |  infer
5395  |  PMS2  |  infer
5423  |  POLB  |  infer
5424  |  POLD1  |  infer
25913  |  POT1  |  infer
5468  |  PPARG  |  infer
5685  |  PSMA4  |  infer
5728  |  PTEN  |  infer
5742  |  PTGS1  |  infer
5743  |  PTGS2  |  infer
5741  |  PTH  |  infer
376267  |  RAB15  |  infer
5879  |  RAC1  |  infer
5887  |  RAD23B  |  infer
5888  |  RAD51  |  infer
5893  |  RAD52  |  infer
8438  |  RAD54L  |  infer
5896  |  RAG1  |  infer
9821  |  RB1CC1  |  infer
85004  |  RERG  |  infer
5979  |  RET  |  infer
26575  |  RGS17  |  infer
8490  |  RGS5  |  infer
9628  |  RGS6  |  infer
6041  |  RNASEL  |  infer
6098  |  ROS1  |  infer
6256  |  RXRA  |  infer
6257  |  RXRB  |  infer
112483  |  SAT2  |  infer
949  |  SCARB1  |  infer
57758  |  SCUBE2  |  infer
23541  |  SEC14L2  |  infer
5265  |  SERPINA1  |  infer
12  |  SERPINA3  |  infer
5270  |  SERPINE2  |  infer
6441  |  SFTPD  |  infer
6462  |  SHBG  |  infer
6504  |  SLAMF1  |  infer
6573  |  SLC19A1  |  infer
9963  |  SLC23A1  |  infer
9962  |  SLC23A2  |  infer
6513  |  SLC2A1  |  infer
6517  |  SLC2A4  |  infer
7779  |  SLC30A1  |  infer
7782  |  SLC30A4  |  infer
29986  |  SLC39A2  |  infer
6522  |  SLC4A2  |  infer
6531  |  SLC6A3  |  infer
6532  |  SLC6A4  |  infer
8435  |  SOAT2  |  infer
6647  |  SOD1  |  infer
6648  |  SOD2  |  infer
6649  |  SOD3  |  infer
79582  |  SPAG16  |  infer
10011  |  SRA1  |  infer
6753  |  SSTR3  |  infer
6772  |  STAT1  |  infer
6794  |  STK11  |  infer
7011  |  TEP1  |  infer
7013  |  TERF1  |  infer
7014  |  TERF2  |  infer
7015  |  TERT  |  infer
7031  |  TFF1  |  infer
7033  |  TFF3  |  infer
7037  |  TFRC  |  infer
7040  |  TGFB1  |  infer
7046  |  TGFBR1  |  infer
7051  |  TGM1  |  infer
7077  |  TIMP2  |  infer
7097  |  TLR2  |  infer
7099  |  TLR4  |  infer
92691  |  TMEM169  |  infer
7124  |  TNF  |  infer
8797  |  TNFRSF10A  |  infer
7132  |  TNFRSF1A  |  infer
10318  |  TNIP1  |  infer
8658  |  TNKS  |  infer
7157  |  TP53  |  infer
9540  |  TP53I3  |  infer
8626  |  TP63  |  infer
7251  |  TSG101  |  infer
222642  |  TSPO2  |  infer
7298  |  TYMS  |  infer
7299  |  TYR  |  infer
7352  |  UCP3  |  infer
54657  |  UGT1A4  |  infer
7412  |  VCAM1  |  infer
7421  |  VDR  |  infer
7422  |  VEGFA  |  infer
55135  |  WRAP53  |  infer
7486  |  WRN  |  infer
7494  |  XBP1  |  infer
7508  |  XPC  |  infer
7515  |  XRCC1  |  infer
7517  |  XRCC3  |  infer
7518  |  XRCC4  |  infer
7520  |  XRCC5  |  infer
161882  |  ZFPM1  |  infer
7773  |  ZNF230  |  infer
59348  |  ZNF350  |  infer
80332  |  ADAM33  |  infer
177  |  AGER  |  infer
308  |  ANXA5  |  infer
362  |  AQP5  |  infer
624  |  BDKRB2  |  infer
6347  |  CCL2  |  infer
990  |  CDC6  |  infer
9425  |  CDYL  |  infer
1285  |  COL4A3  |  infer
1394  |  CRHR1  |  infer
1572  |  CYP2F1  |  infer
1577  |  CYP3A5  |  infer
201163  |  FLCN  |  infer
2729  |  GCLC  |  infer
2730  |  GCLM  |  infer
79807  |  GSTCD  |  infer
3360  |  HTR4  |  infer
246778  |  IL27  |  infer
3569  |  IL6  |  infer
100130549  |  ISCA1P6  |  infer
9817  |  KEAP1  |  infer
391703  |  KRT18P51  |  infer
7804  |  LRP8  |  infer
4314  |  MMP3  |  infer
10  |  NAT2  |  infer
4780  |  NFE2L2  |  infer
2908  |  NR3C1  |  infer
51196  |  PLCE1  |  infer
53916  |  RAB4B  |  infer
6439  |  SFTPB  |  infer
6556  |  SLC11A1  |  infer
4088  |  SMAD3  |  infer
9655  |  SOCS5  |  infer
79875  |  THSD4  |  infer
7145  |  TNS1  |  infer
59341  |  TRPV4  |  infer
221504  |  ZBTB9  |  infer
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1888
Disease pulmonary disease, chronic obstructive
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1888
Disease pulmonary disease, chronic obstructive
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:186)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs100070522314432657484RNF150umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.1202714422012RNF1504141084419CA
rs104271322075484154ADRB2umls:C0024117BeFreeWe tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg and Gln27Glu) are associated with reduced lung function, asthma or chronic obstructive pulmonary disease (COPD).0.0418207062012ADRB25148826877GA
rs104271319747908154ADRB2umls:C0024117BeFreeThe SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers.0.0418207062010ADRB25148826877GA
rs104271325186548154ADRB2umls:C0024117BeFreeFinally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung function and risk of COPD, whereas the more common Gly16Arg and Gln27Glu were not.0.0418207062015ADRB25148826877GA
rs1042713197479085265SERPINA1umls:C0024117BeFreeThe SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers.0.1787075222010ADRB25148826877GA
rs104271425186548154ADRB2umls:C0024117BeFreeFinally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung function and risk of COPD, whereas the more common Gly16Arg and Gln27Glu were not.0.0418207062015ADRB25148826910GC,T
rs104271422075484154ADRB2umls:C0024117BeFreeWe tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg and Gln27Glu) are associated with reduced lung function, asthma or chronic obstructive pulmonary disease (COPD).0.0418207062012ADRB25148826910GC,T
rs1051730224417341136CHRNA3umls:C0024117BeFreeIn ever-smokers, the CHRNA3 rs1051730 genotype associated with reduced lung function and increased COPD severity.0.1290771342012CHRNA31578601997GA
rs1051730221769721134CHRNA1umls:C0024117BeFreeOur findings suggest that rs1051730 in CHRNA is a susceptibility variant for COPD, in terms of both airway obstruction and parenchyma destruction.0.0005428842011CHRNA31578601997GA
rs1052133194934234968OGG1umls:C0024117BeFreehOGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms associated with chronic obstructive pulmonary disease.0.0052769482009OGG1;CAMK139757089CG
rs1052133194934237515XRCC1umls:C0024117BeFreehOGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms associated with chronic obstructive pulmonary disease.0.007643982009OGG1;CAMK139757089CG
rs111342422246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012ADCY257563902GT
rs111342422246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012ADCY257563902GT
rs111342422246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012ADCY257563902GT
rs1117426724621683338811FAM19A2umls:C0024117GWASCATRisk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.0.122014FAM19A21261992819AC,G
rs1130866158177133162HMOX1umls:C0024117BeFreeIn the Boston Early-Onset COPD Study families, significant associations with quantitative and/or qualitative COPD-related phenotypes were found for the tumor necrosis factor (TNF)-alpha -308G>A promoter polymorphism (P < 0.02), a coding variant in surfactant protein B (SFTPB Thr131Ile) (P = 0.03), and the (GT)(31) allele of the heme oxygenase (HMOX1) promoter short tandem repeat (P = 0.02).0.1366451692005SFTPB285666618GA
rs1130866158177136439SFTPBumls:C0024117BeFreeIn the case-control study, the SFTPB Thr131Ile polymorphism was associated with COPD, but only in the presence of a gene-by-environment interaction term (P = 0.01 for both main effect and interaction).0.0267420572005SFTPB285666618GA
rs1130866158177137124TNFumls:C0024117BeFreeIn the Boston Early-Onset COPD Study families, significant associations with quantitative and/or qualitative COPD-related phenotypes were found for the tumor necrosis factor (TNF)-alpha -308G>A promoter polymorphism (P < 0.02), a coding variant in surfactant protein B (SFTPB Thr131Ile) (P = 0.03), and the (GT)(31) allele of the heme oxygenase (HMOX1) promoter short tandem repeat (P = 0.02).0.1849144672005SFTPB285666618GA
rs11308662529987454738FEVumls:C0024117BeFreeThe SFTPB exon polymorphism rs1130866 significantly protected subjects from COPD (adjusted P = 0.004) and was associated with an increase in forced expiratory volume in 1 s (FEV(1)) (adjusted P = 0.014).0.0078718142015SFTPB285666618GA
rs114216682216851877804LRP8umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011NA153405413GC
rs1176077282168518751196PLCE1umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011PLCE11094298879GT
rs11779254248761736660SOX5umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.0005428842015CSMD184391552GC
rs11779254248761738477GPR65umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.0002714422015CSMD184391552GC
rs117792542487617364478CSMD1umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.1202714422015CSMD184391552GC
rs11858836220808383658IREB2umls:C0024117GAD[To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies.]0.1292726312012IREB21578490935GA
rs11858836220808383658IREB2umls:C0024117GWASCATTo date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies.0.1292726312012IREB21578490935GA
rs120523267696140913PPIAP10umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.0002714422012CRP1159712443CT
rs1205232676967040TGFB1umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.2437445442012CRP1159712443CT
rs121917864193817227097TLR2umls:C0024117BeFreeToll-like receptor 2 gene polymorphisms Arg677Trp and Arg753Gln in chronic obstructive pulmonary disease.0.0133641222009TLR24153704936CT
rs126509323144326170680PSORS1C2umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012PSORS1C1;PSORS1C2631139410GA
rs126509323144326170679PSORS1C1umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012PSORS1C1;PSORS1C2631139410GA
rs1269239825241909192668CYS1umls:C0024117GWASCATGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.0.122014CYS1210060189GA
rs12914385251017181136CHRNA3umls:C0024117GWASCATIREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.0.1290771342015CHRNA31578606381CT
rs12914385246216831136CHRNA3umls:C0024117GWASCATAnalysis of 6633 individuals with moderate to severe COPD and 5704 control individuals confirmed association at three known loci: CHRNA3 (p=6·38 × 10(-14)), FAM13A (p=1·12 × 10(-14)), and HHIP (p=1·57 × 10(-12)).0.1290771342014CHRNA31578606381CT
rs12914385252419091136CHRNA3umls:C0024117GWASCATGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.0.1290771342014CHRNA31578606381CT
rs13010343205621294793NFKBIBumls:C0024117BeFreeSignificant associations to the binary COPD phenotype in both populations were seen for STAT1 (rs13010343) and NFKBIB/SIRT2 (rs2241704) (p<0.05).0.0002714422011STAT12190978719GA
rs130103432056212922933SIRT2umls:C0024117BeFreeSignificant associations to the binary COPD phenotype in both populations were seen for STAT1 (rs13010343) and NFKBIB/SIRT2 (rs2241704) (p<0.05).0.0002714422011STAT12190978719GA
rs131189282017374864399HHIPumls:C0024117GAD[Variants in FAM13A are associated with chronic obstructive pulmonary disease.]0.012725432010NA4144565237AG
rs13118928201737482993GYPAumls:C0024117GAD[Variants in FAM13A are associated with chronic obstructive pulmonary disease.]0.0071010962010NA4144565237AG
rs131189281999619064399HHIPumls:C0024117BeFreeA genome-wide association study has demonstrated that two single nucleotide polymorphisms (SNPs) near the Hedgehog-interacting protein (Hip) gene, SNP identifiers rs1828591 and rs13118928, are associated with risk of chronic obstructive pulmonary disease (COPD).0.012725432010NA4144565237AG
rs13180201737481136CHRNA3umls:C0024117GAD[Variants in FAM13A are associated with chronic obstructive pulmonary disease.]0.1290771342010IREB21578497146CT
rs13180201737481138CHRNA5umls:C0024117GAD[Variants in FAM13A are associated with chronic obstructive pulmonary disease.]0.1271770412010IREB21578497146CT
rs13180201737483658IREB2umls:C0024117GWASCATVariants in FAM13A are associated with chronic obstructive pulmonary disease.0.1292726312010IREB21578497146CT
rs13180255657953658IREB2umls:C0024117BeFreeOur results support that IREB2 rs13180 is associated with COPD in Hainan population.0.1292726312015IREB21578497146CT
rs131802246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012IREB21578497146CT
rs131802246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012IREB21578497146CT
rs131802246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012IREB21578497146CT
rs13180201737483658IREB2umls:C0024117GAD[Variants in FAM13A are associated with chronic obstructive pulmonary disease.]0.1292726312010IREB21578497146CT
rs13925703225241909200373CFAP221umls:C0024117GWASCATGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.0.122014CFAP2212119571288CT
rs1427009182524190964478CSMD1umls:C0024117GWASCATGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.0.1202714422014CSMD183448320GA
rs151129007220941174314MMP3umls:C0024117BeFreeIn a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.0.0079154222012MMP21655481799AG
rs151129007220941174322MMP13umls:C0024117BeFreeIn a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.0.0002714422012MMP21655481799AG
rs151129007220941172006ELNumls:C0024117BeFreeIn a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI .34-.85], P < .007) and G1355A ELN (OR = 0.64 ([95% CI .41-.99], P = .046) polymorphisms resulted in independent protective factors for abdominal aortic aneurysm (AAA), whereas 5A/6A MMP3 (OR = 1.82 [95% CI 1.04-3.12], P = .034) and -77 A/G MMP-13 (OR = 2.14 [95% CI 1.18-3.86], P = .012) polymorphisms resulted in independent risk factors for AAA.0.0072629172012MMP21655481799AG
rs1542725221400906670SP3umls:C0024117BeFreeMoreover, rs1542725 demonstrates differential binding to the transcription factor Sp3; the COPD-associated allele exhibits increased Sp3 binding, which is consistent with Sp3's usual function as a transcriptional repressor.0.0002714422012NA4144567182CT
rs16944245048873557IL1RNumls:C0024117BeFreeGenetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in chronic obstructive pulmonary disease, healthy smokers, and non-smokers.0.0138211292015IL1B2112837290AG
rs16944245048873553IL1Bumls:C0024117BeFreeThe primary aim of this study was to investigate the association between surfactant protein D (SFTPD) rs2243639, interleukin (IL)-1β rs16944 and IL-1 receptor antagonist (IL-1RN) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various IL-1RN/IL-1β haplotypes and pulmonary function tests (PFT).0.0212795442015IL1B2112837290AG
rs1695196087162950GSTP1umls:C0024117BeFreeThe GSTP1 I105V polymorphism was protective for COPD in Asian populations only (OR, 0.69; 95% CI, 0.56-0.85).0.0423972662009GSTP11167585218AG
rs170960902246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012NANANANANA
rs170960902246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012NANANANANA
rs170960902246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012NANANANANA
rs17486278251017181138CHRNA5umls:C0024117GWASCATIREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.0.1271770412015CHRNA51578575140AC
rs1799782198210857515XRCC1umls:C0024117BeFreeXRCC1 Arg194Trp polymorphism and risk of chronic obstructive pulmonary disease.0.007643982009XRCC11943553422GA
rs179986422276574729230CCR2umls:C0024117BeFreeThese data suggest that MCP-1 -2518 A/G and CCR2 190G/A polymorphisms are new risk factors for COPD.0.0026384742012CCR2346357717GA
rs1800076154639071080CFTRumls:C0024117BeFreeHigh frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease.0.0196409612004CFTR7117509093GA,T
rs180088825186548154ADRB2umls:C0024117BeFreeFinally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung function and risk of COPD, whereas the more common Gly16Arg and Gln27Glu were not.0.0418207062015ADRB25148827322CT
rs180088822075484154ADRB2umls:C0024117BeFreeWe tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg and Gln27Glu) are associated with reduced lung function, asthma or chronic obstructive pulmonary disease (COPD).0.0418207062012ADRB25148827322CT
rs18285911999619064399HHIPumls:C0024117BeFreeA genome-wide association study has demonstrated that two single nucleotide polymorphisms (SNPs) near the Hedgehog-interacting protein (Hip) gene, SNP identifiers rs1828591 and rs13118928, are associated with risk of chronic obstructive pulmonary disease (COPD).0.012725432010LOC1053774624144559628AG
rs1828591193004822993GYPAumls:C0024117GAD[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.]0.0071010962009LOC1053774624144559628AG
rs18285911930048264399HHIPumls:C0024117GAD[The CHRNA 3/5 and the HHIP loci make a significant contribution to the risk of COPD.]0.012725432009LOC1053774624144559628AG
rs188383219622350958CD40umls:C0024117BeFreeAssociation of CD40 -1C/T polymorphism in the 5'-untranslated region and chronic obstructive pulmonary disease.0.0079154222009CD402046118343TC
rs19645162208083810144FAM13Aumls:C0024117GAD[To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies.]0.2479913662012FAM13A;LOC105377327488954758CT
rs19645162208083810144FAM13Aumls:C0024117GWASCATTo date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies.0.2479913662012FAM13A;LOC105377327488954758CT
rs2069825218144633569IL6umls:C0024117BeFreeThe IL6 rs2069825 single nucleotide polymorphism also interacted with smoking to affect the risk of cardiovascular disease in COPD patients.0.0294664072011IL6;LOC541472722725718-CT,TC
rs20706002246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012AGER632183666CT
rs20706002246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012AGER632183666CT
rs20706002246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012AGER632183666CT
rs2074488231443263107HLA-Cumls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012HLA-C;LOC101929772631272654GT
rs2227744249734022149F2Rumls:C0024117BeFreeThe aim of this study was to investigate the role of the promoter single-nucleotide polymorphism (SNP) rs2227744G>A in modulating PAR-1/F2R gene expression in the context of chronic obstructive pulmonary disease (COPD) and COPD exacerbations.0.0005428842014F2R576714524GA
rs2234663245048873553IL1Bumls:C0024117BeFreeThe primary aim of this study was to investigate the association between surfactant protein D (SFTPD) rs2243639, interleukin (IL)-1β rs16944 and IL-1 receptor antagonist (IL-1RN) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various IL-1RN/IL-1β haplotypes and pulmonary function tests (PFT).0.0212795442015NANANANANA
rs2234663245048873557IL1RNumls:C0024117BeFreeGenetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in chronic obstructive pulmonary disease, healthy smokers, and non-smokers.0.0138211292015NANANANANA
rs2234922173637672052EPHX1umls:C0024117BeFreeIn a case-control analysis of COPD susceptibility limited to cases with densitometric upper-lobe-predominant cases, the EPHX1 His139Arg single-nucleotide polymorphism was associated with COPD (p = 0.005).0.1697361282007EPHX11225838705AG,T
rs22417042056212922933SIRT2umls:C0024117BeFreeSignificant associations to the binary COPD phenotype in both populations were seen for STAT1 (rs13010343) and NFKBIB/SIRT2 (rs2241704) (p<0.05).0.0002714422011NFKBIB1938905695AT
rs2241704205621294793NFKBIBumls:C0024117BeFreeSignificant associations to the binary COPD phenotype in both populations were seen for STAT1 (rs13010343) and NFKBIB/SIRT2 (rs2241704) (p<0.05).0.0002714422011NFKBIB1938905695AT
rs2241718232676967040TGFB1umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.2437445442012CCDC971941323701GA
rs224171823267696140913PPIAP10umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.0002714422012CCDC971941323701GA
rs2243639245048873557IL1RNumls:C0024117BeFreeGenetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in chronic obstructive pulmonary disease, healthy smokers, and non-smokers.0.0138211292015SFTPD1079941966TC
rs2243639245048873553IL1Bumls:C0024117BeFreeThe primary aim of this study was to investigate the association between surfactant protein D (SFTPD) rs2243639, interleukin (IL)-1β rs16944 and IL-1 receptor antagonist (IL-1RN) rs2234663 gene polymorphisms and COPD susceptibility, as well as examining the association between the various IL-1RN/IL-1β haplotypes and pulmonary function tests (PFT).0.0212795442015SFTPD1079941966TC
rs22507471979619954738FEVumls:C0024117BeFreeIn females, but not in males, rs2250747 of the IL13RA1 gene was associated with COPD and lower FEV(1).0.0078718142010IL13RA1X118729785AG
rs2250747197961993597IL13RA1umls:C0024117BeFreeIn females, but not in males, rs2250747 of the IL13RA1 gene was associated with COPD and lower FEV(1).0.0026384742010IL13RA1X118729785AG
rs24638222314432680150ASRGL1umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012ASRGL11162335948TC
rs2522137247879494440MSI1umls:C0024117BeFreeIn multivariate analysis, Musashi-1 rs2522137 was still significantly associated with lung cancer when environmental and lifestyle factors were incorporated in the model, including lower BMI; family history of cancer; prior diagnosis of chronic obstructive pulmonary disease, pneumonia, or pulmonary tuberculosis; occupational exposure to pesticide; occupational exposure to gasoline or diesel fuel; heavier smoking; and exposure to heavy cooking emissions.0.0002714422014MSI112120342128TG
rs25487194934237515XRCC1umls:C0024117BeFreehOGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms associated with chronic obstructive pulmonary disease.0.007643982009XRCC11943551574TC
rs25487194934234968OGG1umls:C0024117BeFreehOGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms associated with chronic obstructive pulmonary disease.0.0052769482009XRCC11943551574TC
rs280863023267696140913PPIAP10umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.0002714422012NA1159711078CT
rs2808630232676967040TGFB1umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.2437445442012NA1159711078CT
rs282374323144326388815MIR99AHGumls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012MIR99AHG2116295399TC
rs286499255849251740DLG2umls:C0024117GWASCATWe have identified two novel loci (in or near the genes KLHL7/NUPL2 and DLG2) that may play a role in COPD pathogenesis in Hispanic populations.0.1202714422015DLG21185482825TG
rs2867533821685187123688HYKKumls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.1250055062011HYKK1578535289CT
rs28699662524190910144FAM13Aumls:C0024117GWASCATWe found genome-wide significant associations with CB COPD on 4q22.1 (FAM13A) and 11p15.5 (EFCAB4A, CHID1 and AP2A2), and a locus associated with CB within COPD subjects on 1q23.3 (RPL31P11 and ATF6).0.2479913662014FAM13A;LOC105377327488947927CT
rs28699672524190910144FAM13Aumls:C0024117GWASCATWe found genome-wide significant associations with CB COPD on 4q22.1 (FAM13A) and 11p15.5 (EFCAB4A, CHID1 and AP2A2), and a locus associated with CB within COPD subjects on 1q23.3 (RPL31P11 and ATF6).0.2479913662014FAM13A;LOC105377327488948181TC
rs313055923144326170679PSORS1C1umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012PSORS1C1631129524CT
rs326118186356824552MTRRumls:C0024117BeFreeAt the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA.0.0026384742008MTRR;FASTKD357868430TG
rs3439141625241909283229CRACR2Bumls:C0024117GWASCATWe found genome-wide significant associations with CB COPD on 4q22.1 (FAM13A) and 11p15.5 (EFCAB4A, CHID1 and AP2A2), and a locus associated with CB within COPD subjects on 1q23.3 (RPL31P11 and ATF6).0.122014CD151;CRACR2B11831818GA
rs3439141625241909977CD151umls:C0024117GWASCATGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.0.122014CD151;CRACR2B11831818GA
rs3615252029953154738FEVumls:C0024117BeFreePatients with polymorphism had more chronic bronchitis, a lower body mass index, and a greater annual decline in FEV(1) than patients with COPD without rs361525 polymorphism.0.0078718142010TNF631575324GA
rs361525202995317124TNFumls:C0024117GAD[Tumor necrosis factor-{alpha} rs361525 polymorphism is associated with increased local production and downstream inflammation in chronic obstructive pulmonary disease.]0.1849144672010TNF631575324GA
rs361525266209757124TNFumls:C0024117BeFreeThe rs361525 polymorphism does not increase production of tumor necrosis factor alpha by monocytes from alpha-1 antitrypsin deficient subjects with chronic obstructive pulmonary disease - a pilot study.0.1849144672015TNF631575324GA
rs361525202995317124TNFumls:C0024117BeFreeTumor necrosis factor-{alpha} rs361525 polymorphism is associated with increased local production and downstream inflammation in chronic obstructive pulmonary disease.0.1849144672010TNF631575324GA
rs361525266209755265SERPINA1umls:C0024117BeFreeThe rs361525 polymorphism does not increase production of tumor necrosis factor alpha by monocytes from alpha-1 antitrypsin deficient subjects with chronic obstructive pulmonary disease - a pilot study.0.1787075222015TNF631575324GA
rs3741240231443267356SCGB1A1umls:C0024117GWASCATSeveral SNPs highly associated with CC16 or SP-D levels were nominally associated with COPD in a collaborative GWAS (P = 0.001-0.049), although these COPD associations were not replicated in two additional cohorts.0.1202714422012SCGB1A1;LOC1027237651162419070GA
rs3791232500674464399HHIPumls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.012725432014MYO1D1732564796TC
rs3791232500674451382ATP6V1Dumls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.0002714422014MYO1D1732564796TC
rs379123250067444642MYO1Dumls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.0002714422014MYO1D1732564796TC
rs379123250067441136CHRNA3umls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.1290771342014MYO1D1732564796TC
rs379123250067444321MMP12umls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.0247323432014MYO1D1732564796TC
rs386493716194934234968OGG1umls:C0024117BeFreehOGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms associated with chronic obstructive pulmonary disease.0.0052769482009NANANANANA
rs386493716194934237515XRCC1umls:C0024117BeFreehOGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms associated with chronic obstructive pulmonary disease.0.007643982009NANANANANA
rs386545546198210857515XRCC1umls:C0024117BeFreeXRCC1 Arg194Trp polymorphism and risk of chronic obstructive pulmonary disease.0.007643982009NANANANANA
rs386603284201604244321MMP12umls:C0024117BeFreeTo investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G-->GG, MMP-9 -1562C-->T and MMP-12 N357S), which have been reported to be associated with COPD-related phenotypes, with the risk of COPD in a Korean population.0.0247323432010NANANANANA
rs41511151190290172006ELNumls:C0024117GAD[Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.]0.0072629172009ELN774068657GA
rs43167102246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012THSD41571509681GC
rs43167102246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012THSD41571509681GC
rs43167102246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012THSD41571509681GC
rs44164422524190910144FAM13Aumls:C0024117GWASCATWe found genome-wide significant associations with CB COPD on 4q22.1 (FAM13A) and 11p15.5 (EFCAB4A, CHID1 and AP2A2), and a locus associated with CB within COPD subjects on 1q23.3 (RPL31P11 and ATF6).0.2479913662014FAM13A;LOC105377327488945562TC
rs44164422462168310144FAM13Aumls:C0024117GWASCATAnalysis of 6633 individuals with moderate to severe COPD and 5704 control individuals confirmed association at three known loci: CHRNA3 (p=6·38 × 10(-14)), FAM13A (p=1·12 × 10(-14)), and HHIP (p=1·57 × 10(-12)).0.2479913662014FAM13A;LOC105377327488945562TC
rs4846480246216837042TGFB2umls:C0024117GWASCATRisk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.0.122014TGFB21218425127AT
rs4986791201690037099TLR4umls:C0024117BeFreeAssociation of TLR4-T399I polymorphism with chronic obstructive pulmonary disease in smokers.0.0090870652009TLR49117713324CT
rs5564554321685187308ANXA5umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011ANXA54121686023TC
rs562383102168518725945PVRL3umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011NA3111514392CA,T
rs5743708193817227097TLR2umls:C0024117BeFreeToll-like receptor 2 gene polymorphisms Arg677Trp and Arg753Gln in chronic obstructive pulmonary disease.0.0133641222009TLR24153705165GA
rs57438101618804310333TLR6umls:C0024117BeFreeEvaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease.0.0026384742005TLR6438828729AG
rs58436719365107151056PLB1umls:C0024117BeFreeThe Gly80Ser polymorphism in phospholipase A2-IID (PLA2G2D, NCBI SNP reference: rs584367) is associated with a loss in body weight in patients with chronic obstructive pulmonary disease (COPD).0.0005428842009PLA2G2D120115561TC
rs595697852487617364478CSMD1umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.1202714422015SOX51223618801CT
rs59569785248761738477GPR65umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.0002714422015SOX51223618801CT
rs59569785248761736660SOX5umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.0005428842015SOX51223618801CT
rs6495309232558541134CHRNA1umls:C0024117BeFreeThe rs6495309C > T polymorphism in the promoter of nicotinic acetylcholine receptor alpha subunit 3 (CHRNA3) gene was investigated in a case-control study that consisted of 406 patients with COPD and 394 healthy control subjects.0.0005428842012CHRNA3;CHRNB41578622903CT
rs652438201604244321MMP12umls:C0024117BeFreeTo investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G-->GG, MMP-9 -1562C-->T and MMP-12 N357S), which have been reported to be associated with COPD-related phenotypes, with the risk of COPD in a Korean population.0.0247323432010MMP1211102865911TG,C
rs6574978248761736660SOX5umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.0005428842015GPR651488011069CT
rs65749782487617364478CSMD1umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.1202714422015GPR651488011069CT
rs6574978248761738477GPR65umls:C0024117BeFreeThe non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap.0.0002714422015GPR651488011069CT
rs658542423144326311ANXA11umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012ANXA111080173992AG
rs6609533217632975265SERPINA1umls:C0024117BeFreePIM3 allele of α(1)AT gene in COPD patients was found to be associated with low levels of α(1)AT (P = 0.001), the effect being more pronounced when PIM3 combined with rs6609533 of TIMP-1 gene (P = 0.0001).0.1787075222011SYN1;TIMP1;MIR4769X47585887AG
rs660953321763297415116PIM3umls:C0024117BeFreePIM3 allele of α(1)AT gene in COPD patients was found to be associated with low levels of α(1)AT (P = 0.001), the effect being more pronounced when PIM3 combined with rs6609533 of TIMP-1 gene (P = 0.0001).0.0005428842011SYN1;TIMP1;MIR4769X47585887AG
rs6957232676967040TGFB1umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.2437445442012CCDC971941324701TC
rs695723267696140913PPIAP10umls:C0024117BeFreeHaplotype analysis showed that the frequencies of the GC, GT haplotypes of rs2241718 (TGF-β1 gene), and rs6957 (CDC97 gene) were significantly higher in the control group than in the COPD case group (p=1.88×10-9); the frequencies of the TT haplotype of rs1205 and rs2808630 (CRP gene) were significantly higher in the control group (p=0.0377).0.0002714422012CCDC971941324701TC
rs7078012231443266441SFTPDumls:C0024117GWASCATSeveral SNPs highly associated with CC16 or SP-D levels were nominally associated with COPD in a collaborative GWAS (P = 0.001-0.049), although these COPD associations were not replicated in two additional cohorts.0.2101728332012SFTPD1079945677CT
rs7181486251017183658IREB2umls:C0024117GWASCATIREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.0.1292726312015IREB21578449276TC
rs7286162314432680195TMEM254umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012TMEM2541080088158GT
rs73717741216851879425CDYLumls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011CDYL64874525CG
rs7543882510171879890RIN3umls:C0024117GWASCATIREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.0.122015RIN31492649065GC
rs7543882462168379890RIN3umls:C0024117GWASCATRisk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.0.122014RIN31492649065GC
rs76351433216851879655SOCS5umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011NA246795404AC
rs76378016961709112744IL17Fumls:C0024117BeFreeGiven that asthma and COPD are complex diseases involving a number of genetic and environmental factors, the genetic impact of IL-17F H161R with regard to the development of chronic airway inflammation likely varies among individuals with different genetic backgrounds and environmental exposures.0.0008143262006IL17F;LOC105375088652236941TC
rs765584124621683132320SCLT1umls:C0024117GWASCATRisk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.0.122014SCLT14128969635TC
rs76711672017374810144FAM13Aumls:C0024117GWASCATVariants in FAM13A are associated with chronic obstructive pulmonary disease.0.2479913662010FAM13A488962828CT
rs76711672246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012FAM13A488962828CT
rs76711672017374810144FAM13Aumls:C0024117GAD[Variants in FAM13A are associated with chronic obstructive pulmonary disease.]0.2479913662010FAM13A488962828CT
rs76711672246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012FAM13A488962828CT
rs76711672246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012FAM13A488962828CT
rs76743692510171810144FAM13Aumls:C0024117GWASCATIREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.0.2479913662015FAM13A;LOC105377327488951025GA
rs768849412168518725945PVRL3umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011NA3111482938TG
rs79372208083853916RAB4Bumls:C0024117GAD[A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.]0.0023670322012RAB4B;MIA-RAB4B;RAB4B-EGLN21940796801CT
rs793722080838100529264RAB4B-EGLN2umls:C0024117GWASCATA genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.0.122012RAB4B;MIA-RAB4B;RAB4B-EGLN21940796801CT
rs793722080838100529262MIA-RAB4Bumls:C0024117GWASCATA genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.0.122012RAB4B;MIA-RAB4B;RAB4B-EGLN21940796801CT
rs8003379186356824552MTRRumls:C0024117BeFreeAt the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA.0.0026384742008MTHFD11464406881AC
rs803419119300482123688HYKKumls:C0024117GAD[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.]0.1250055062009HYKK1578513681TC
rs8034191193004821136CHRNA3umls:C0024117GAD[The CHRNA 3/5 and the HHIP loci make a significant contribution to the risk of COPD.]0.1290771342009HYKK1578513681TC
rs8034191193004821138CHRNA5umls:C0024117GAD[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.]0.1271770412009HYKK1578513681TC
rs80341912246143157117INTS12umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0005428842012HYKK1578513681TC
rs803419119300482123688HYKKumls:C0024117GWASCATA genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.0.1250055062009HYKK1578513681TC
rs80341912246143110144FAM13Aumls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.2479913662012HYKK1578513681TC
rs8034191193004823658IREB2umls:C0024117GAD[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.]0.1292726312009HYKK1578513681TC
rs8034191193004825685PSMA4umls:C0024117GAD[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.]0.0023670322009HYKK1578513681TC
rs8034191193004821137CHRNA4umls:C0024117GAD[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.]0.0026384742009HYKK1578513681TC
rs80341912246143179875THSD4umls:C0024117BeFreeWe included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).0.0031813582012HYKK1578513681TC
rs8042238252419093658IREB2umls:C0024117GWASCATGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.0.1292726312014IREB21578481929CT
rs8048576231443269914ATP2C2umls:C0024117GWASCATGenome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.0.122012ATP2C21684389428GA
rs8582492558492511097NUPL2umls:C0024117GWASCATWe have identified two novel loci (in or near the genes KLHL7/NUPL2 and DLG2) that may play a role in COPD pathogenesis in Hispanic populations.0.1202714422015NUPL2723181020AG
rs9118872044805754738FEVumls:C0024117BeFreeIn the family-based analysis of the Boston Early-Onset COPD Study, rs911887 was associated with prebronchodilator and postbronchodilator FEV(1) (P = 0.003 and P = 0.02, respectively).0.0078718142011SFTPD1079941767TC
rs929609221685187221504ZBTB9umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011NA633510719AG
rs939415221685187221504ZBTB9umls:C0024117GAD[The authors identified two candidate regions associated with age at smoking initiation in patients with COPD.]0.0023670322011NA633497705CT
rs95906142500674451382ATP6V1Dumls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.0002714422014VWA81341601452GC
rs9590614250067444321MMP12umls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.0247323432014VWA81341601452GC
rs95906142500674464399HHIPumls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.012725432014VWA81341601452GC
rs9590614250067444642MYO1Dumls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.0002714422014VWA81341601452GC
rs9590614250067441136CHRNA3umls:C0024117BeFreeTwo are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12).0.1290771342014VWA81341601452GC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:367)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
115347640rs6667220GArs6667220231443268.00E-06IL6NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers6667220-GClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
121736327rs12750103AGrs12750103228373789.00E-11NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
125421990rs11588172TCrs11588172193004829.02E-06NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
126085398rs12130495GTrs12130495243834741.10E-04NA0.07[0.03-0.11] unit decrease2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
137967774rs215864CArs215864193004823.30E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
138805929rs11210569TCrs11210569193004824.40E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
141293419rs3767943GArs3767943193004829.18E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
153536025rs2275456TCrs2275456229869030.0000031NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
153871085rs114216682GCrs114216682216851877.00E-08Smoking cessation4.49NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers114216682-GRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
156359813rs6684428TArs6684428228373785.00E-07Smoker1.23NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers6684428-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
168785213rs11209261TArs11209261228373783.00E-06FEV1 65%1.23NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
179682535rs7529406ACrs7529406193004826.13E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1163500711rs3001089TGrs3001089246216835.00E-07(AA)NANA5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., Extramural
1165935581rs7524799TCrs7524799193004826.74E-06NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1165961938rs7522756AGrs7522756193004821.44E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1165967420rs732285GArs732285193004824.86E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1165996331rs6426962ACrs6426962193004821.94E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1181042889rs6682093GArs6682093239907911.03E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1181046368rs3856068ACrs3856068239907911.67E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1181056160rs6662507GArs6662507239907911.42E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1181065807rs2275470GArs2275470239907911.79E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186454429rs497285CArs497285239907912.94E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186456336rs480075AGrs480075239907912.76E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186548140rs1013665CTrs1013665239907911.05E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186599018rs7514491TCrs7514491239907911.19E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186642429rs2206593AGrs2206593239907914.60E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186649221rs2745557AGrs2745557239907912.43E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186652002rs2745559ACrs2745559239907913.03E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1186658072rs1119065CTrs1119065239907911.03E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1210923061rs4951563AGrs4951563193004821.73E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1218598469rs4846480ATrs4846480246216838.00E-09NANANA3,145 European ancestry cases; 3,955 European ancestry controls; 352 African American cases; 1,749 African American controlsAfrican American(2101)European(7100)ALL(9201)AFR(2101)EUR(7100)ALL(9201)Chronic obstructive pulmonary disease (severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers4846480-AResearch Support, N.I.H., Extramural
1223469434rs17161994CGrs17161994193004829.46E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1235760817rs10926189CTrs10926189193004829.95E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
213021683rs10182783GArs10182783239907913.37E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213041090rs6728142TCrs6728142239907914.54E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213042709rs13430556TCrs13430556239907913.82E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213042823rs13388631GCrs13388631239907913.56E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213042870rs10172921GArs10172921239907913.30E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213045563rs13390247TCrs13390247239907914.20E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213054564rs13400830AGrs13400830239907917.83E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
213055358rs16859504GArs16859504239907918.38E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
215872327rs2080799TCrs2080799193004826.74E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
215872385rs2080798TCrs2080798193004821.63E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
222568713rs7569716ATrs7569716246216831.00E-07(AA)NANA5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., Extramural
247022543rs76351433ACrs76351433216851872.00E-07Current CPD1.45NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers76351433-ARandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
247942902rs4588237AGrs4588237193004827.66E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
257107235rs12479315AGrs12479315239907911.86E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
257110146rs2216407CArs2216407239907911.92E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
259605576rs4432437TCrs4432437193004824.22E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
277666733rs13395897AGrs13395897239907913.76E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
2114022658rs6542127TCrs6542127193004829.25E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2117946885rs10179218CArs10179218228373781.85E-08NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2118876072rs11673894GTrs11673894193004829.71E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2119536884rs1551133CArs1551133193004822.38E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2130468366rs10928927CTrs10928927216851873.00E-07Age at smoking initiation17.54NA3,441 European ancestry ever-smokers with COPDEuropean(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers10928927-CRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
2157452216rs6706895GCrs6706895193004827.90E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2158791560rs6720264AGrs6720264193004826.69E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2168824134rs935381CTrs935381193004827.47E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2169869901rs4148777AGrs4148777193004829.07E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2183057446rs1432534ACrs1432534193004828.75E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2196531667rs41416845TCrs41416845228373781.65E-08NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2213081443rs1402769TGrs1402769193004824.46E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2237521842rs7607316CArs7607316228373783.00E-06Never smoker1.29NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers7607316-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
33096927rs163574AGrs163574193004826.77E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
34633492rs2322734CArs2322734228373788.00E-06FEV1 65%1.45NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
310632679rs4234503CTrs4234503228373781.95E-08NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
313857969rs1124480TCrs1124480231443269.00E-06IL6NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers1124480-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
325538317rs1997352CA,Trs1997352228373789.00E-07All1.19NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
343909699rs6790122TArs6790122193004822.93E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
355969858rs4974153GTrs4974153193004829.55E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
355993656rs12495172GArs12495172193004822.79E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
356054077rs13061634TCrs13061634193004822.76E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
356070758rs9862661ACrs9862661193004821.57E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
371201454rs7653672GArs7653672239907913.45E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
371202106rs11923661ACrs11923661239907912.34E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
371204263rs1522178CGrs1522178239907912.63E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3111201785rs76884941TGrs76884941216851871.00E-07Current CPD2.11NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers76884941-GRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
3111233239rs56238310CA,Trs56238310216851871.00E-07Current CPD2.11NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers56238310-ARandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
3123699823rs17310770ACrs17310770193004826.65E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
3135441431rs11719713CArs11719713193004827.22E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
3149252824rs16861952CArs16861952239907918.28E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3149754956rs16862394CTrs16862394228373785.10E-09NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
3158320880rs2304408GCrs2304408239907911.99E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158335409rs7624771CTrs7624771239907912.28E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158360592rs6776901TCrs6776901239907912.55E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158360944rs6777231TCrs6777231239907912.56E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158376354rs17697458CGrs17697458239907912.62E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158389860rs17630607CTrs17630607239907912.67E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158405873rs17698494GArs17698494239907912.57E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158411704rs17698754GArs17698754239907912.46E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158411704rs539104674GGCrs17698754239907912.46E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158415840rs3867391TGrs3867391239907912.44E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158419789rs17699103AGrs17699103239907912.41E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158420369rs7610009CArs7610009239907912.41E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158424561rs17699324TCrs17699324239907912.40E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158457914rs12489730TGrs12489730239907913.94E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158484933rs17700475AGrs17700475239907911.25E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158485260rs17643860GArs17643860239907911.24E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158485739rs17643917AGrs17643917239907911.23E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158486700rs3863076AGrs3863076239907911.69E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158489641rs1560418AGrs1560418239907911.11E-07imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158489782rs1560417GArs1560417239907911.11E-07imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158491377rs2566347CArs2566347239907917.88E-08imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158500559rs6761989CTrs6761989239907911.14E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158505003rs1430414GTrs1430414239907919.26E-07imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3158510674rs7624420CArs7624420239907914.43E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
3171631672rs12485367CGrs12485367228373781.53E-09NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
3185141857rs7629245CTrs7629245228373789.00E-06Smoker1.22NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers7629245-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
424444785rs6823107CTrs6823107193004823.62E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
424515631rs7698250CTrs7698250243834742.00E-10(Chinese)0.46[0.32-0.61] unit increase2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
457334112rs12505749CGrs12505749228373785.00E-06All1.27NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
487362834rs4488910TCrs4488910228373781.24E-09NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
488807246rs10004908GArs10004908228373783.67E-10NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
489866713rs4416442TCrs4416442246216831.00E-14NA1.28[1.20-1.36] 5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers4416442-CResearch Support, N.I.H., Extramural
489866713rs4416442TCrs4416442246216839.00E-15NA1.36[1.26-1.47] 3,145 European ancestry cases; 3,955 European ancestry controls; 352 African American cases; 1,749 African American controlsAfrican American(2101)European(7100)ALL(9201)AFR(2101)EUR(7100)ALL(9201)Chronic obstructive pulmonary disease (severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers4416442-CResearch Support, N.I.H., Extramural
489869332rs2869967TCrs2869967201737481.80E-07NANANA2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
489869332rs2869967TCrs2869967219210921.41E-06Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
489875909rs1964516CTrs1964516220808382.00E-09NA1.37[1.23-1.52] 3,499 European ancestry cases; 1,922 European ancestry controlsEuropean(5421)ALL(5421)EUR(5421)ALL(5421)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Meta-Analysis
489883979rs7671167CTrs7671167201737481.00E-11NA1.32[1.19-1.47]2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
489883979rs7671167CTrs7671167219210928.22E-08Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
489886297rs1903003CTrs1903003201737487.74E-08NANANA2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
489886297rs1903003CTrs1903003219210926.87E-08Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
4107000462rs11097912CTrs11097912228373786.00E-06smokers1.18NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
4108115222rs10516541GArs10516541179033074.00E-06NANANAUp to 1,222 individualsNOPOP(1222)ALL(1222)NOPOP(1222)ALL(1222)Mean forced vital capacity from 2 examsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD008176Lung Volume MeasurementsNANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
4109217929rs13144621TCrs13144621228373781.00E-06All1.16NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
4122607178rs55645543TCrs55645543216851875.00E-07Age at smoking initiation4.39NA3,441 European ancestry ever-smokers with COPDEuropean(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers55645543-TRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
4125449253rs312495TCrs312495193004827.60E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
4129890790rs7655841TCrs7655841246216837.00E-07(AA)NANA5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., Extramural
4136037410rs4330400AGrs4330400229869030.0000073NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
4142005573rs10007052CArs10007052231443261.00E-07TNFANANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers10007052-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
4145480780rs1828591AGrs1828591193004821.00E-07NA1.38[1.17-1.63] 823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
4145480780rs1828591AGrs1828591201737481.18E-07NANANA2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
4145486389rs13118928AGrs13118928201737485.00E-07NA1.25[1.14-1.37] 2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
4145506456rs13141641TCrs13141641220808383.00E-07NA1.32[1.14-1.54] 3,499 European ancestry cases; 1,922 European ancestry controlsEuropean(5421)ALL(5421)EUR(5421)ALL(5421)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Meta-Analysis
4145506456rs13141641TCrs13141641246216832.00E-12NA1.27[1.19-1.36] 5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers13141641-TResearch Support, N.I.H., Extramural
4145506456rs13141641TCrs13141641246216834.00E-15NA1.39[1.28-1.51] 3,145 European ancestry cases; 3,955 European ancestry controls; 352 African American cases; 1,749 African American controlsAfrican American(2101)European(7100)ALL(9201)AFR(2101)EUR(7100)ALL(9201)Chronic obstructive pulmonary disease (severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers13141641-TResearch Support, N.I.H., Extramural
4145506558rs6852830CArs6852830193004826.66E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
4145511194rs1996020ACrs1996020193004824.86E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
4154850835rs11099924AGrs11099924239907913.50E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
4154854591rs4411966AGrs4411966239907913.90E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
4154854674rs4622983GArs4622983239907914.71E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
4155481289rs4508864CTrs4508864231443266.00E-06FGNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers4508864-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
515014182rs7341022GArs7341022193004829.97E-08NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515018537rs9686327GArs9686327193004829.84E-08NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515022112rs7727670GTrs7727670193004828.38E-08NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515039327rs735243GArs735243193004822.02E-07NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515044842rs30539GArs30539193004823.38E-06NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515054802rs1080879TCrs1080879193004827.69E-07NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515087791rs32466CTrs32466193004828.31E-07NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515114063rs16903825TCrs16903825193004822.35E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
515117438rs32447GArs32447193004826.46E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
552977472rs4147743TArs4147743228373789.99E-10NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
557972853rs158990AGrs158990193004825.04E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
579412328rs4703798TCrs4703798239907917.50E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
5111443754rs26566TCrs26566193004827.81E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
5111444522rs25796TCrs25796193004826.43E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
5129721857rs4835994TCrs4835994239907913.38E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
5129797899rs6893779ACrs6893779239907914.63E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
5138850905rs13181561GArs13181561231443266.00E-06FGNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers13181561-GClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
5147856333rs7733088GArs7733088228373784.00E-09Smoker1.23NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
5148834935rs729319CArs729319193004823.36E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
5161702316rs2963162GTrs2963162193004821.54E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
64874759rs73717741CGrs73717741216851873.00E-07Age at smoking initiation11.9NA3,441 European ancestry ever-smokers with COPDEuropean(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers73717741-GRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
69788659rs12662524AGrs12662524193004828.11E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
620920123rs4712564AGrs4712564193004828.79E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
620940761rs9350301TGrs9350301193004828.93E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
620955332rs7775523TCrs7775523193004825.12E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
624306387rs16889038TGrs16889038228373788.00E-07FEV1 65%1.39NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
631097301rs3130559CTrs3130559231443268.00E-09SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers3130559-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
631107187rs1265093GArs1265093231443266.00E-09SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers1265093-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
631240431rs2074488GTrs2074488231443262.00E-10SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers2074488-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
631346822rs9266629TCrs9266629231443264.00E-10SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers9266629-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
632124424rs10947233GTrs10947233243834743.20E-08NA0.15[0.097-0.20] unit decrease2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
633465482rs9394152CTrs9394152216851877.00E-08Age at smoking initiation22.22NA3,441 European ancestry ever-smokers with COPDEuropean(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers9394152-CRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
633478496rs9296092AGrs9296092216851876.00E-07Age at smoking initiationNANA3,441 European ancestry ever-smokers with COPDEuropean(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNARandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
672300534rs12193019TCrs12193019193004822.27E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
672337017rs10942957CTrs10942957193004823.15E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
672346472rs1575208CTrs1575208193004821.46E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
673376868rs12194741TCrs12194741229869030.0000018NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
693713805rs652520TCrs652520231443262.00E-06CRPNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers652520-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
6127900557rs9482826AGrs9482826193004825.44E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
6142753338rs1329705GArs1329705228373783.00E-06FEV1 65%1.27NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
6144344172rs9484838TCrs9484838239907913.34E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
6149322058rs9390650CTrs9390650239907912.78E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
6149331339rs7770997AGrs7770997239907913.16E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
6149354801rs6930963CGrs6930963239907914.55E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
728432476rs7799265CGrs7799265228373782.00E-06FEV1 65%1.54NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
736210485rs6973373GArs6973373193004823.32E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
767354119rs12698626CTrs12698626239907914.20E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
767361027rs6971526CTrs6971526239907912.74E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
771388850rs11766496GCrs11766496228373782.00E-06All1.3NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers11766496-CResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
794054000rs441051TCrs441051179033072.00E-06NANANAUp to 1,222 individualsNOPOP(1222)ALL(1222)NOPOP(1222)ALL(1222)Mean forced vital capacity from 2 examsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD008176Lung Volume MeasurementsNANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
7135771582rs6944889CGrs6944889193004827.21E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
83778212rs2912263GTrs2912263193004823.59E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
83828758rs2688352CArs2688352239907913.93E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
814687178rs12681897TCrs12681897193004824.84E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
817964559rs7844251GArs7844251228373781.22E-09NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
872270082rs7006821TCrs7006821231443265.00E-06IL8NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers7006821-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
880553207rs4739642CTrs4739642193004826.99E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
897522509rs2589183GArs2589183193004824.50E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
8112607588rs13279316TCrs13279316239907914.09E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
8119830680rs903614ACrs903614231443263.00E-06IL8NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers903614-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
99910123rs10759102GArs10759102228373781.00E-06FEV1 65%1.23NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
926580067rs996414GArs996414219210928.76E-07Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
9104218656rs10989511AGrs10989511193004827.27E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
9137928371rs4842213TArs4842213193004823.77E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
108040431rs11593082TCrs11593082239907913.69E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1028748824rs12762979GArs12762979193004824.59E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1043821380rs2460535CTrs2460535239907913.95E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1059677013rs12772513CArs12772513193004826.08E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1062826952rs7922793CTrs7922793229869030.0000023NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1062906955rs10761570TGrs10761570229869030.00000006NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1062907028rs10761571ACrs10761571229869030.000000037NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1062907185rs7896712TArs7896712229869030.000000037NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1062907226rs7911302AC,G,Trs7911302229869030.000000044NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1062929997rs4948444GArs4948444229869030.00000036NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081694950rs1923539GArs1923539231443265.00E-09SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers1923539-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081705433rs7078012CTrs7078012231443265.00E-09SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers7078012-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081735981rs3923564AGrs3923564231443262.00E-27SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers3923564-GClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081788104rs12220777TCrs12220777231443267.00E-11SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers12220777-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081847914rs728616GTrs728616231443262.00E-12SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers728616-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081882370rs3851050TCrs3851050231443261.00E-11SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers3851050-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1081933748rs6585424AGrs6585424231443261.00E-10SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers6585424-GClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1094168797rs2263638GArs2263638228373783.00E-06Never smoker1.28NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1096058636rs117607728GTrs117607728216851874.00E-07Lifetime average CPD3NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers117607728-GRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
10119379656rs181654AGrs181654228373781.00E-07no asthma0.81NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
10133957761rs954820GArs954820231443264.00E-06IL6NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers954820-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
117642031rs10769813GArs10769813193004828.54E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1134805849rs7929679AGrs7929679231443267.00E-09CC16NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers7929679-GClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1162103420rs2463822TCrs2463822231443261.00E-10CC16NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers2463822-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1162186542rs3741240GArs3741240231443261.00E-26CC16NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers3741240-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1162197427rs2077224CArs2077224231443262.00E-14CC16NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers2077224-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1162199817rs17157266TCrs17157266231443261.00E-09CC16NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers17157266-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1192668826rs3847554CTrs3847554193004829.03E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1199090508rs4754595AGrs4754595193004824.90E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1199154402rs12421122CTrs12421122193004823.52E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1199165666rs12577504CTrs12577504193004828.16E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1199191617rs12576370CTrs12576370193004827.59E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1199257825rs11219732CTrs11219732193004824.47E-06NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11102720945rs626750GArs626750246216833.00E-09NANANA3,145 European ancestry cases; 3,955 European ancestry controls; 352 African American cases; 1,749 African American controlsAfrican American(2101)European(7100)ALL(9201)AFR(2101)EUR(7100)ALL(9201)Chronic obstructive pulmonary disease (severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers626750-GResearch Support, N.I.H., Extramural
11120408071rs3901366GArs3901366193004821.21E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11120412169rs2253023CTrs2253023193004822.46E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11120426966rs2248540TCrs2248540193004826.99E-06NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11120446830rs12796185TCrs12796185193004821.79E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11120468752rs7105963CTrs7105963193004829.90E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11120483858rs11603831CTrs11603831193004822.83E-06NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
11132010117rs4468361TCrs4468361231443268.00E-06TNFANANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers4468361-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
124139900rs7300338CTrs7300338239907911.61E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1216942935rs2129818GTrs2129818239907914.28E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1216956601rs1386819AGrs1386819239907914.72E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1262386600rs11174267AGrs11174267246216838.00E-07(AA)NANA5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., Extramural
1296260474rs7957346CArs7957346243834742.20E-08NA0.06[0.0354-0.0746] unit decrease2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
12100578633rs10778044CTrs10778044228373781.19E-08NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
12104248696rs11111814TCrs11111814228373789.24E-10NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
12105670337rs10861369CTrs10861369193004829.39E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
12114637848rs4767234ACrs4767234228373786.00E-07Smoker1.17NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers4767234-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
12121403724rs7953249GArs7953249231443261.00E-06CRPNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers7953249-GClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
12121622304rs3751143ACrs3751143231443264.00E-06IL8NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers3751143-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
12129894564rs2030436AGrs2030436229869030.00000032NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1324666535rs8002029AGrs8002029239907914.65E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1324666571rs7984719TCrs7984719239907914.73E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.05NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1324666937rs9511045GArs9511045239907911.44E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1324670163rs1983870CTrs1983870239907913.04E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1324795489rs715921GArs715921228373788.00E-07No asthma1.2NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers715921-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1346363053rs7988287ACrs7988287193004824.69E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1353494694rs9536318GArs9536318228373788.00E-07No asthma1.25NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1368196361rs4338667GTrs4338667239907912.71E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369722212rs9541789TGrs9541789239907911.63E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369722321rs9529519CTrs9529519239907911.68E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369723025rs9541790AGrs9541790239907912.90E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369725358rs9599423TCrs9599423239907911.31E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369727042rs1023818AGrs1023818239907918.04E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369728322rs1446379CArs1446379239907917.61E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369728606rs1446378GArs1446378239907917.45E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369730587rs9541793CArs9541793239907917.37E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1369741249rs9541803GArs9541803239907912.46E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1377096697rs4885410TCrs4885410228373783.32E-11NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
13105421263rs7331728AGrs7331728229869030.0000036NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
13113447211rs447590ACrs447590239907913.75E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1428728111rs6576132CArs6576132248255635.00E-08(AA)0[0.003-0.005] unit increase820 African American casesAfrican American(820)ALL(820)AFR(820)ALL(820)Resting oxygen saturation in chronic obstructive pulmonary disease (pulse oxymetry)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers6576132-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1432342702rs8009673CArs8009673193004829.54E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1438085277rs12147245TArs12147245229869030.000000021NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1438111870rs177852CTrs177852229869030.000000063NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1438116311rs177858TGrs177858229869030.00000099NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1438116960rs177859GArs177859229869030.00000099NANANA4,048 European ancestry casesEuropean(4048)ALL(4048)EUR(4048)ALL(4048)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAMulticenter StudyResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1439722023rs10134365GCrs10134365193004822.50E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1448555664rs9788469AGrs9788469193004821.43E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1456886686rs17832777ACrs17832777231443266.00E-06TNFANANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers17832777-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1461852793rs1886467AGrs1886467228373781.86E-08NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1462401183rs17099345GArs17099345193004826.93E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1465865625rs7147624TGrs7147624231443265.00E-06TNFANANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers7147624-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1471652891rs6574008CGrs6574008239907914.51E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1471653170rs10145569TArs10145569239907914.03E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1481877382rs8022070CTrs8022070193004828.10E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1493115410rs754388GCrs754388246216835.00E-09NANANA5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers754388-CResearch Support, N.I.H., Extramural
1493115410rs754388GCrs754388246216837.00E-08NANANA3,145 European ancestry cases; 3,955 European ancestry controls; 352 African American cases; 1,749 African American controlsAfrican American(2101)European(7100)ALL(9201)AFR(2101)EUR(7100)ALL(9201)Chronic obstructive pulmonary disease (severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers754388-CResearch Support, N.I.H., Extramural
1497529421rs1622472TCrs1622472193004826.71E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1497535923rs1738899GArs1738899193004826.09E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1499402433rs200303GTrs200303193004827.96E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1549704741rs12591300GArs12591300219210927.90E-07Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1549755842rs4480740GArs4480740219210921.03E-06Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
1550004083rs17404727TCrs17404727219210927.17E-07Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1563099535rs4774453GArs4774453228373782.95E-09NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1571679959rs2044029AGrs2044029228373781.00E-07All1.17NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers2044029-AResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1574716609rs8036030AGrs8036030228373788.00E-06No asthma1.18NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1578745707rs2656069CTrs2656069219210921.35E-06Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
1578783277rs11858836GArs11858836220808381.00E-06NA1.29[1.13-1.47] 3,499 European ancestry cases; 1,922 European ancestry controlsEuropean(5421)ALL(5421)EUR(5421)ALL(5421)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Meta-Analysis
1578789488rs13180CTrs13180201737482.00E-08NA1.3[1.18-1.43] 2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1578789488rs13180CTrs13180219210929.93E-08Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1578792527rs1062980TCrs1062980201737483.42E-05NANANA2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1578792527rs1062980TCrs1062980219210929.53E-08Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1578806023rs8034191TCrs8034191193004821.00E-10NA1.4[1.18-1.67]823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers8034191-CResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1578806023rs8034191TCrs8034191201737485.31E-06NANANA2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1578806023rs8034191TCrs8034191219210921.06E-07Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1578816057rs8031948GTrs8031948228373783.00E-09Smokers1.22NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers8031948-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1578826948rs2036534TCrs2036534219210921.38E-06Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
1578827631rs28675338CTrs28675338216851871.00E-07Lifetime average CPD5.21NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers28675338-TRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
1578827631rs58709975CCTrs28675338216851871.00E-07Lifetime average CPD5.21NA3,441 Caucasian ever-smokers with COPDCaucasian(3441)ALL(3441)EUR(3441)ALL(3441)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseasers28675338-TRandomized Controlled TrialMulticenter StudyResearch Support, N.I.H., Extramural
1578867482rs17486278ACrs17486278228373782.00E-07All1.18NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1578894339rs1051730GArs1051730201737482.14E-05NANANA2,940 white cases; 1,380 white controlsNOPOP(4320)ALL(4320)NOPOP(4320)ALL(4320)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1578894339rs1051730GArs1051730219210925.54E-07Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1578898723rs12914385CTrs12914385219210922.81E-07Chronic obstructive pulmonary disease (COPD)NANA58 Costa Rica descent cases; 57 Costa Rica descent controlsCosta Rica(115)ALL(115)HIS(115)ALL(115)chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
1578898723rs12914385CTrs12914385246216833.00E-16NA1.39[1.29-1.51] 3,145 European ancestry cases; 3,955 European ancestry controls; 352 African American cases; 1,749 African American controlsAfrican American(2101)European(7100)ALL(9201)AFR(2101)EUR(7100)ALL(9201)Chronic obstructive pulmonary disease (severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers12914385-TResearch Support, N.I.H., Extramural
1578898723rs12914385CTrs12914385246216836.00E-14NA1.28[1.20-1.36] 5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers12914385-TResearch Support, N.I.H., Extramural
1586233351rs16943236CTrs16943236193004827.68E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1590089276rs8038108CArs8038108248255635.00E-09(AA)0.01[0.006-0.013] unit decrease820 African American casesAfrican American(820)ALL(820)AFR(820)ALL(820)Resting oxygen saturation in chronic obstructive pulmonary disease (pulse oxymetry)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseasers8038108-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1592883840rs12905014TCrs12905014228373784.00E-07FEV1 65%1.75NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1598048196rs2399702CTrs2399702239907913.95E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1616114892rs246214CTrs246214228373786.80E-11NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1623352848rs239349GArs239349193004823.09E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1627977483rs2898879CTrs2898879193004821.35E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1653816275rs8050136CArs8050136210371154.00E-08BMINANA2,272 Caucasian individuals; 933 Norwegian individualsCaucasian(2272)Norwegian(933)ALL(3205)EUR(3205)ALL(3205)Body mass in chronic obstructive pulmonary diseaseHPOID:0001507HPOID:0006510Growth abnormalityChronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0004340chronic obstructive pulmonary diseaseChronic obstructive airway diseasers8050136-A
1670913984rs12149070CTrs12149070231443268.00E-06IL8NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers12149070-TClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1684423034rs8048576GArs8048576231443269.00E-13SP-DNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers8048576-AClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1774988444rs7221059CArs7221059243834743.00E-08(Chinese)0.33[0.21-0.44] unit decrease2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
1775400100rs892961TArs892961228373789.00E-06no asthma1.18NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
185604240rs4798376TCrs4798376239907914.03E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1851093875rs7233241TCrs7233241193004827.76E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1861877156rs4534959AGrs4534959228373787.00E-07FEV1 65%1.72NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1870227021rs17086172TCrs17086172228373787.00E-06no asthma1.35NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
1871878517rs9951925CArs9951925231443262.00E-06FGNANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers9951925-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
1873309989rs4263026GCrs4263026239907913.47E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1912752425rs10411619TCrs10411619243834741.00E-09(Hispanic)0.18[0.12-0.23] unit decrease2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
1912752425rs10411619TCrs10411619243834746.70E-05NA0.05[0.02-0.07] unit decrease2,587 European ancestry individuals; 2,510 African American individuals; 2,113 Hispanic individuals; 704 Chinese ancestry individualsChinese(704)African American(2510)European(2587)Hispanic(2113)ALL(7914)ASN(704)HIS(2113)AFR(2510)EUR(2587)ALL(7914)Pulmonary emphysemaHPOID:0006510Chronic obstructive pulmonary diseaseDOID:9675pulmonary emphysemaNANANA
1914985805rs16980016GArs16980016193004827.95E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
1918232754rs11086090GTrs11086090239907915.74E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1918233195rs12462442GArs12462442239907915.74E-06imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1918234005rs12611216GArs12611216239907911.01E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1918234567rs740692GTrs740692239907911.74E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1918234639rs740693GArs740693239907912.59E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1918240298rs12609740GArs12609740239907914.16E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.04NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
1941302706rs7937CTrs7937220808383.00E-09NA1.37[1.20-1.59] 3,499 European ancestry cases; 1,922 European ancestry controlsEuropean(5421)ALL(5421)EUR(5421)ALL(5421)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Meta-Analysis
207009158rs16992973GArs16992973228373781.26E-09NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2019100148rs2208796GArs2208796228373782.69E-10NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2055454659rs6099314AGrs6099314246216834.00E-07(AA)NANA5,812 European ancestry cases; 3,955 European ancestry controls; 821 African American cases; 1,749 African American controlsAfrican American(2570)European(9767)ALL(12337)AFR(2570)EUR(9767)ALL(12337)Chronic obstructive pulmonary disease (moderate to severe)HPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., Extramural
2058894423rs6100861GArs6100861193004827.16E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2117667720rs2823743TCrs2823743231443261.00E-06IL6NANAUp to 1,951 European ancestry smokersEuropean(1951)ALL(1951)EUR(1951)ALL(1951)Chronic obstructive pulmonary disease-related biomarkersHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0005080surfactant protein D measurementChronic obstructive airway diseasers2823743-CClinical TrialResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't
2127716654rs9975851CTrs9975851228373784.00E-06No asthma1.17NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseasers9975851-TResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2138694499rs9978132CArs9978132193004827.22E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2146583016rs453176TCrs453176239907912.37E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
2146584076rs407550GCrs407550239907912.37E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
2146593983rs17004749TCrs17004749239907912.54E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
2146597274rs7279483GCrs7279483239907912.65E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.06NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
2217590744rs1468488TCrs1468488239907914.52E-05imputed, conditional on PI S and Z alleles in GWAS stage only 0.03NA1,392 European ancestry individualsEuropean(1392)ALL(1392)EUR(1392)ALL(1392)Serum alpha1-antitrypsin levelsHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseNANANANAChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.
2226337911rs2269640CTrs2269640193004827.54E-05NANANA823 cases; 810 controlsNOPOP(1633)ALL(1633)NOPOP(1633)ALL(1633)Chronic obstructive pulmonary diseaseHPOID:0006510Chronic obstructive pulmonary diseaseDOID:3083chronic obstructive pulmonary diseaseD029424Pulmonary Disease, Chronic ObstructiveEFOID:0000341chronic obstructive pulmonary diseaseChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov't
2226653362rs1207393CGrs1207393228373785.00E-06FEV1 65%1.19NAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
2239984086rs132577ATrs132577228373781.85E-08NANANAup to 3,368 European ancestry cases; up to 29,507 European ancestry controlsEuropean(32875)ALL(32875)EUR(32875)ALL(32875)Airflow obstructionHPOID:0006536Obstructive lung diseaseDOID:3083chronic obstructive pulmonary diseaseD000402Airway ObstructionEFOID:0003892pulmonary function measurementChronic obstructive airway diseaseNAResearch Support, N.I.H., ExtramuralMeta-AnalysisResearch Support, Non-U.S. Gov't
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:7)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0024117enalaprilD00465675847-73-3pulmonary disease, chronic obstructiveMESH:D029424therapeutic20096799
C0024117glycopyrrolateD006024596-51-0pulmonary disease, chronic obstructiveMESH:D029424therapeutic21870878
C0024117methotrexateD0087271959/5/2pulmonary disease, chronic obstructiveMESH:D029424therapeutic1450620
C0024117norepinephrineD00963851-41-2pulmonary disease, chronic obstructiveMESH:D029424marker/mechanism18068611
C0024117theophyllineD01380658-55-9pulmonary disease, chronic obstructiveMESH:D029424therapeutic1546832
C0024117timololD01399926839-75-8pulmonary disease, chronic obstructiveMESH:D029424marker/mechanism7402590
C0024117zafirlukastC062735107753-78-6pulmonary disease, chronic obstructiveMESH:D029424therapeutic12781059
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)