PedAM
Pediatric Disease Annotations & Medicines
| osteoporosis | ||||
| Disease ID | 284 |
|---|---|
| Disease | osteoporosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:20) C0030193 | pain | 34 C1390474 | bone fragility | 14 C0042870 | vitamin d deficiency | 10 C0006142 | breast cancer | 8 C0022821 | kyphosis | 8 C0151825 | bone pain | 6 C0007570 | celiac disease | 5 C0023895 | liver diseases | 4 C0038013 | ankylosing spondylitis | 4 C0029464 | osteosclerosis | 3 C0020502 | hyperparathyroidism | 3 C0599750 | hormone deficiency | 2 C1955566 | intravenous bisphosphonates | 2 C0150055 | chronic pain | 2 C0026764 | multiple myeloma | 2 C0184567 | acute pain | 1 C0427008 | stiffness | 1 C0017178 | gastrointestinal diseases | 1 C0236075 | menopausal symptoms | 1 C1384666 | hearing loss | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:162) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1038304 | 21646926 | 2099 | ESR1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.154263043 | 2011 | CCDC170 | 6 | 151612040 | A | G |
| rs1038304 | 21646926 | 182 | JAG1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.000271442 | 2011 | CCDC170 | 6 | 151612040 | A | G |
| rs1038304 | 21646926 | 4038 | LRP4 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.003181358 | 2011 | CCDC170 | 6 | 151612040 | A | G |
| rs10416265 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10416265 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10416265 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10416265 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10416265 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10416265 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10416265 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | GPATCH1 | 19 | 33114394 | A | G |
| rs10487076 | 17903296 | 219557 | C7orf62 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | NA | 7 | 89348607 | T | C |
| rs10492036 | 17903295 | 114795 | TMEM132B | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 12 | 125719508 | T | C |
| rs10492653 | 17903295 | 10464 | PIBF1 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | PIBF1 | 13 | 72969927 | G | A |
| rs10493148 | 17903295 | 22824 | HSPA4L | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | HSPA4L | 4 | 127830446 | T | C |
| rs10494675 | 17903295 | 8707 | B3GALT2 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | B3GALT2;CDC73 | 1 | 193181743 | T | C |
| rs10494675 | 17903295 | 79577 | CDC73 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | B3GALT2;CDC73 | 1 | 193181743 | T | C |
| rs10499182 | 17903296 | 9465 | AKAP7 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | AKAP7 | 6 | 131172269 | C | T |
| rs10504216 | 17903296 | 54928 | IMPAD1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | NA | 8 | 57068911 | G | A |
| rs10506330 | 17903296 | 117159 | DCD | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | NA | 12 | 54697497 | A | T |
| rs10506532 | 17903296 | 11197 | WIF1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | WIF1 | 12 | 65111882 | C | T |
| rs10506550 | 17903296 | 55832 | CAND1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | LOC105369812 | 12 | 67451682 | C | A |
| rs10506698 | 17903295 | 552889 | ATXN7L3B | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 12 | 74651637 | T | C |
| rs10515754 | 17903296 | 9685 | CLINT1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | CLINT1 | 5 | 157806530 | T | C |
| rs10516056 | 17903296 | 6586 | SLIT3 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | SLIT3 | 5 | 169041532 | C | T |
| rs10516143 | 17903296 | 57472 | CNOT6 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | CNOT6 | 5 | 180553302 | T | A |
| rs10516264 | 17903296 | 9957 | HS3ST1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | LOC105374494 | 4 | 13032521 | C | T |
| rs10516293 | 17903296 | 952 | CD38 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | CD38 | 4 | 15848487 | G | A |
| rs1056836 | 18977467 | 1545 | CYP1B1 | umls:C0029456 | BeFree | Our data suggest that through its effect on the rate of estrogen catabolism, the Val432Leu polymorphism of the CYP1B1 gene may represent as a possible genetic risk factor for osteoporosis in American women. | 0.000271442 | 2009 | CYP1B1 | 2 | 38071060 | G | C |
| rs1106184 | 17903295 | 10130 | PDIA6 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | PDIA6 | 2 | 10823401 | T | C |
| rs11859916 | 22087292 | 7369 | UMOD | umls:C0029456 | GAD | [Our study implicated HK2, UMOD, MIR873 and MIR876, as pleiotropic genes underlying variation of both FNGPs and ALM, thus suggesting their important functional roles in co-regulating both FNGPs and ALM.] | 0.002367032 | 2011 | UMOD | 16 | 20339909 | G | A |
| rs11898505 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs11898505 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs11898505 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs11898505 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs11898505 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs11898505 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs11898505 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | SPTBN1 | 2 | 54457420 | A | G |
| rs12151790 | 20548944 | 6694 | SPP2 | umls:C0029456 | GAD | [An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.] | 0.002367032 | 2010 | LOC105373933 | 2 | 234302083 | G | A |
| rs12218 | 23522429 | 7439 | BEST1 | umls:C0029456 | BeFree | And the rs12218 was found to be associated with plasma TG, HDL-C, LDL-C, and BMD levels in osteoporosis patients (P<0.05). | 0.007600372 | 2013 | SAA1 | 11 | 18269774 | T | C |
| rs12673692 | 23303384 | 221981 | THSD7A | umls:C0029456 | BeFree | We previously reported 2 osteoporosis-susceptibility genes--formiminotransferase N-terminal sub-domain containing gene (FONG) and thrombospondin, type 1, domain-containing 7A (THSD7A)--in which we identified two common single-nucleotide polymorphisms, rs7605378 (FONG) and rs12673692 (THSD7A). | 0.003538676 | 2013 | THSD7A | 7 | 11528903 | G | A |
| rs13182402 | 20072603 | 501 | ALDH7A1 | umls:C0029456 | GWASCAT | Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. | 0.122638474 | 2010 | ALDH7A1 | 5 | 126582456 | A | G |
| rs1375615 | 17903295 | 53353 | LRP1B | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | LRP1B | 2 | 142041516 | C | T |
| rs1507274 | 17903296 | 255631 | COL24A1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | NA | 1 | 86193766 | T | A |
| rs1561164 | 17903295 | 389136 | VGLL3 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 3 | 87076876 | G | A |
| rs1606321 | 17903295 | 51059 | FAM135B | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | FAM135B | 8 | 138343962 | A | G |
| rs17184557 | 20548944 | 220164 | DOK6 | umls:C0029456 | GAD | [An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.] | 0.122367032 | 2010 | DOK6 | 18 | 69475621 | T | A |
| rs17184557 | 20548944 | 220164 | DOK6 | umls:C0029456 | GWASCAT | An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. | 0.122367032 | 2010 | DOK6 | 18 | 69475621 | T | A |
| rs17651 | 22868802 | 3552 | IL1A | umls:C0029456 | BeFree | Our results of the association of IL-1α gene single nucleotide polymorphisms (SNPs) rs2071375 (+12534G>A) and rs17651 (+4845G>T) with osteoporotic features indicate its role in pathogenesis of osteoporosis. | 0.003810118 | 2012 | NA | NA | NA | NA | NA |
| rs1800629 | 15797957 | 7124 | TNF | umls:C0029456 | BeFree | We evaluated the association between a G-308A polymorphism (rs1800629) at the TNFA locus and osteoporosis phenotypes in 4306 older women participating in the Study of Osteoporotic Fractures. | 0.018260007 | 2005 | TNF | 6 | 31575254 | G | A |
| rs1800796 | 19506792 | 1917 | EEF1A2 | umls:C0029456 | BeFree | After adjusting for age, the IL6 -634G > C (rs1800796) allele showed association with osteoporosis (odds ratio (OR) for CC + CG = 2.51, p = 0.0047)), independent of statin use or smoking status. | 0.000271442 | 2010 | IL6;LOC541472 | 7 | 22726627 | G | C |
| rs1801133 | 17712717 | 4524 | MTHFR | umls:C0029456 | BeFree | The C677T (rs1801133) polymorphism of MTHFR (methylenetetrahydrofolate reductase) has been associated with the risk of cardiovascular events, and also with osteoporosis in some studies. | 0.022365311 | 2007 | MTHFR | 1 | 11796321 | G | A |
| rs1801725 | 17374704 | 846 | CASR | umls:C0029456 | BeFree | An alanine (A) to serine (S) polymorphism at codon 986 (A986S) of the CASR gene has been associated with higher calcium and osteoporosis; the association with coronary artery disease (CAD) has not been studied. | 0.001900093 | 2007 | CASR | 3 | 122284910 | G | T |
| rs1801725 | 12574201 | 846 | CASR | umls:C0029456 | BeFree | These results are in contrast to those in young or premenopausal women, and they provide no support for an important role for the CASR A986S polymorphism in osteoporosis. | 0.001900093 | 2003 | CASR | 3 | 122284910 | G | T |
| rs1858114 | 17903295 | 54510 | PCDH18 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 4 | 137814564 | A | G |
| rs1883832 | 18097708 | 958 | CD40 | umls:C0029456 | BeFree | Women with the TT genotype in rs1883832 SNP affecting to Kozak consensus sequence of CD40 gene had lower BMD at FN and at LS sites and increased risk of osteopenia or osteoporosis. | 0.002995792 | 2008 | CD40 | 20 | 46118343 | T | C |
| rs1943212 | 17903295 | 284274 | SMIM21 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 18 | 75730496 | C | T |
| rs2062375 | 20548944 | 10584 | COLEC10 | umls:C0029456 | GWASCAT | An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. | 0.12 | 2010 | COLEC10 | 8 | 118965553 | G | C |
| rs2062375 | 20548944 | 4982 | TNFRSF11B | umls:C0029456 | GAD | [A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene.] | 0.169854342 | 2010 | COLEC10 | 8 | 118965553 | G | C |
| rs2071375 | 22868802 | 3552 | IL1A | umls:C0029456 | BeFree | Our results of the association of IL-1α gene single nucleotide polymorphisms (SNPs) rs2071375 (+12534G>A) and rs17651 (+4845G>T) with osteoporotic features indicate its role in pathogenesis of osteoporosis. | 0.003810118 | 2012 | IL1A | 2 | 112777861 | C | T |
| rs2101552 | 17903295 | 27133 | KCNH5 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | KCNH5 | 14 | 62726230 | T | C |
| rs2214681 | 17903296 | 26047 | CNTNAP2 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | CNTNAP2 | 7 | 148005600 | A | G |
| rs2223713 | 17903295 | 1121 | CHM | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | X | 86110417 | A | C |
| rs2251471 | 17903296 | 130940 | CCDC148 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | CCDC148 | 2 | 158391218 | C | T |
| rs2273061 | 21646926 | 182 | JAG1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.000271442 | 2011 | JAG1 | 20 | 10658895 | G | A |
| rs2273061 | 21646926 | 2099 | ESR1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.154263043 | 2011 | JAG1 | 20 | 10658895 | G | A |
| rs2273061 | 21646926 | 4038 | LRP4 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.003181358 | 2011 | JAG1 | 20 | 10658895 | G | A |
| rs2278729 | 20548944 | 11138 | TBC1D8 | umls:C0029456 | GWASCAT | A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene. | 0.122638474 | 2010 | TBC1D8 | 2 | 101052395 | G | A |
| rs2278729 | 20548944 | 11138 | TBC1D8 | umls:C0029456 | GAD | [A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene.] | 0.122638474 | 2010 | TBC1D8 | 2 | 101052395 | G | A |
| rs2297480 | 18687167 | 2224 | FDPS | umls:C0029456 | GAD | [Danish postmenopausal women with osteoporosis bearing the homozygous CC genotype for rs2297480 FDPS polymorphism showed a decreased response of bone turnover markers to amino-bisphosphonate therapy, when compared to the heterozygous AC and to the homozygous AA genotypes.] | 0.002909916 | 2008 | FDPS;PKLR | 1 | 155309691 | T | G |
| rs2306033 | 21646926 | 4038 | LRP4 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.003181358 | 2011 | LRP4 | 11 | 46875895 | G | A |
| rs2306033 | 21646926 | 2099 | ESR1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.154263043 | 2011 | LRP4 | 11 | 46875895 | G | A |
| rs2306033 | 21646926 | 182 | JAG1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.000271442 | 2011 | LRP4 | 11 | 46875895 | G | A |
| rs2336434 | 17903296 | 11197 | WIF1 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | NA | 12 | 65125486 | T | G |
| rs2424513 | 17903295 | 7056 | THBD | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 20 | 23065387 | G | A |
| rs2908007 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | NA | 7 | 121322110 | A | G |
| rs2908007 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | NA | 7 | 121322110 | A | G |
| rs2908007 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | NA | 7 | 121322110 | A | G |
| rs2908007 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | NA | 7 | 121322110 | A | G |
| rs2908007 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | NA | 7 | 121322110 | A | G |
| rs2908007 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | NA | 7 | 121322110 | A | G |
| rs2908007 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | NA | 7 | 121322110 | A | G |
| rs2982552 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs2982552 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs2982552 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs2982552 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs2982552 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs2982552 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs2982552 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | ESR1 | 6 | 151738428 | G | A |
| rs3020331 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | NA | 6 | 151687645 | C | T |
| rs3020331 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | NA | 6 | 151687645 | C | T |
| rs3020331 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | NA | 6 | 151687645 | C | T |
| rs3020331 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | NA | 6 | 151687645 | C | T |
| rs3020331 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | NA | 6 | 151687645 | C | T |
| rs3020331 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | NA | 6 | 151687645 | C | T |
| rs3020331 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | NA | 6 | 151687645 | C | T |
| rs3130340 | 21646926 | 2099 | ESR1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.154263043 | 2011 | LOC101929163 | 6 | 32276850 | T | C |
| rs3130340 | 21646926 | 182 | JAG1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.000271442 | 2011 | LOC101929163 | 6 | 32276850 | T | C |
| rs3130340 | 21646926 | 4038 | LRP4 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.003181358 | 2011 | LOC101929163 | 6 | 32276850 | T | C |
| rs324702 | 17903295 | 8615 | USO1 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 4 | 75816637 | C | G |
| rs324735 | 17903295 | 8615 | USO1 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | USO1 | 4 | 75783861 | A | T |
| rs340707 | 17903295 | 51059 | FAM135B | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | FAM135B | 8 | 138367721 | T | C |
| rs371388 | 17903295 | 5521 | PPP2R2B | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | PPP2R2B | 5 | 146682504 | A | T |
| rs3736228 | 19571442 | 4041 | LRP5 | umls:C0029456 | BeFree | These data suggest that the A1330V variation in the LRP5 gene may affect the pathogenesis of osteoporosis. | 0.177885434 | 2009 | LRP5 | 11 | 68433827 | C | T |
| rs3736228 | 18455228 | 4041 | LRP5 | umls:C0029456 | BeFree | A non-synonymous SNP in the LRP5 gene was associated with decreased bone mineral density (rs3736228, p=6.3x10(-12) for lumbar spine and p=1.9x10(-4) for femoral neck) and an increased risk of both osteoporotic fractures (odds ratio [OR] 1.3, 95% CI 1.09-1.52, p=0.002) and osteoporosis (OR 1.3, 1.08-1.63, p=0.008). | 0.177885434 | 2008 | LRP5 | 11 | 68433827 | C | T |
| rs397507444 | 25981594 | 4524 | MTHFR | umls:C0029456 | BeFree | The examined SNPs (MTHFR (C677T, and A1298C), TGFβ1 (T869C), and TNFB (A252G)) were tested by genotyping 17 RA patients with OP and 72 RA patients without OP. | 0.022365311 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 25981594 | 7040 | TGFB1 | umls:C0029456 | BeFree | The examined SNPs (MTHFR (C677T, and A1298C), TGFβ1 (T869C), and TNFB (A252G)) were tested by genotyping 17 RA patients with OP and 72 RA patients without OP. | 0.234829231 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs4355801 | 18455228 | 4982 | TNFRSF11B | umls:C0029456 | BeFree | Three SNPs near the TNFRSF11B gene were associated with decreased bone mineral density (top SNP, rs4355801: p=7.6x10(-10) for lumbar spine and p=3.3x10(-8) for femoral neck) and increased risk of osteoporosis (OR 1.2, 95% CI 1.01-1.42, p=0.038). | 0.169854342 | 2008 | NA | 8 | 118911634 | A | G,T |
| rs4869739 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4869739 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4869739 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4869739 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4869739 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4869739 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4869739 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | CCDC170 | 6 | 151580667 | A | T |
| rs4870044 | 21646926 | 182 | JAG1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.000271442 | 2011 | CCDC170 | 6 | 151580274 | C | T |
| rs4870044 | 21646926 | 4038 | LRP4 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.003181358 | 2011 | CCDC170 | 6 | 151580274 | C | T |
| rs4870044 | 21646926 | 2099 | ESR1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.154263043 | 2011 | CCDC170 | 6 | 151580274 | C | T |
| rs494453 | 20548944 | 5906 | RAP1A | umls:C0029456 | GWASCAT | A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene. | 0.122638474 | 2010 | RAP1A | 1 | 111649500 | T | C |
| rs597319 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs597319 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs597319 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs597319 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs597319 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs597319 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs597319 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | TMEM135 | 11 | 87142955 | A | G |
| rs604578 | 17903295 | 10982 | MAPRE2 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | MAPRE2 | 18 | 35089476 | T | A |
| rs6929137 | 21646926 | 2099 | ESR1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.154263043 | 2011 | CCDC170 | 6 | 151615542 | G | A |
| rs6929137 | 21646926 | 4038 | LRP4 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.003181358 | 2011 | CCDC170 | 6 | 151615542 | G | A |
| rs6929137 | 21646926 | 182 | JAG1 | umls:C0029456 | BeFree | Our study indicates that osteoporosis susceptibility SNPs, such as ESR1 (rs1038304, rs4870044, rs6929137), MHC (rs3130340), low-density lipoprotein receptor-related protein 4 (rs2306033), and jagged1 (rs2273061), might independently and/or in an interactive manner influence ANM and maximal height. | 0.000271442 | 2011 | CCDC170 | 6 | 151615542 | G | A |
| rs700760 | 17903296 | 79670 | ZCCHC6 | umls:C0029456 | GAD | [The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.] | 0.002367032 | 2007 | ZCCHC6 | 9 | 86319709 | G | T |
| rs7108052 | 17903295 | 390197 | OR4D10 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | OR4D10 | 11 | 59475503 | G | A |
| rs7176093 | 17903295 | 64410 | KLHL25 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | MIR548AP | 15 | 85826199 | G | A |
| rs719988 | 17903295 | 1121 | CHM | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | CHM | X | 85893361 | G | A |
| rs720684 | 17903295 | 3084 | NRG1 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NRG1 | 8 | 32200295 | C | T |
| rs7227401 | 20548944 | 114876 | OSBPL1A | umls:C0029456 | GAD | [A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene.] | 0.122638474 | 2010 | OSBPL1A;LOC105372025 | 18 | 24358694 | T | G |
| rs7227401 | 20548944 | 114876 | OSBPL1A | umls:C0029456 | GWASCAT | A two-stage meta-analysis of GWAS from 7,633 Caucasian women and 3,657 men, revealed three novel loci associated with osteoporosis-related traits, including chromosome 1p13.2 (RAP1A, p = 3.6x10(-8)), 2q11.2 (TBC1D8), and 18q11.2 (OSBPL1A), and confirmed a previously reported region near TNFRSF11B/OPG gene. | 0.122638474 | 2010 | OSBPL1A;LOC105372025 | 18 | 24358694 | T | G |
| rs7483 | 22327174 | 27306 | HPGDS | umls:C0029456 | BeFree | The results of our study demonstrate the genetic association between detoxifying enzyme GSTM3 and BMD variation, suggesting that the Val224Ile polymorphism and 224Ile-insAGG haplotype could be used for further evaluation of the impact of GSTs gene polymorphisms on osteoporosis, using larger cohorts in searching for osteoporosis risk markers. | 0.000542884 | 2012 | GSTM3 | 1 | 109737079 | C | T |
| rs7483 | 22327174 | 2947 | GSTM3 | umls:C0029456 | BeFree | The results of our study demonstrate the genetic association between detoxifying enzyme GSTM3 and BMD variation, suggesting that the Val224Ile polymorphism and 224Ile-insAGG haplotype could be used for further evaluation of the impact of GSTs gene polymorphisms on osteoporosis, using larger cohorts in searching for osteoporosis risk markers. | 0.000271442 | 2012 | GSTM3 | 1 | 109737079 | C | T |
| rs7605378 | 23303384 | 221981 | THSD7A | umls:C0029456 | BeFree | We previously reported 2 osteoporosis-susceptibility genes--formiminotransferase N-terminal sub-domain containing gene (FONG) and thrombospondin, type 1, domain-containing 7A (THSD7A)--in which we identified two common single-nucleotide polymorphisms, rs7605378 (FONG) and rs12673692 (THSD7A). | 0.003538676 | 2013 | FTCDNL1;LOC105373832 | 2 | 199812203 | A | C |
| rs7605378 | 21573128 | 348751 | FTCDNL1 | umls:C0029456 | GWASCAT | Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese. | 0.120271442 | 2011 | FTCDNL1;LOC105373832 | 2 | 199812203 | A | C |
| rs7646054 | 18499081 | 50650 | ARHGEF3 | umls:C0029456 | GAD | [Identification of a role for the ARHGEF3 gene in postmenopausal osteoporosis.] | 0.010096888 | 2008 | ARHGEF3 | 3 | 56775600 | A | G |
| rs7741021 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs7741021 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs7741021 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs7741021 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs7741021 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs7741021 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs7741021 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | RSPO3;LOC105377988 | 6 | 127147129 | A | C |
| rs784288 | 23349225 | 2122 | MECOM | umls:C0029456 | GWASCAT | Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture. | 0.12 | 2013 | MECOM | 3 | 169253443 | A | G |
| rs7888911 | 17903295 | 1756 | DMD | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.009695963 | 2007 | DMD | X | 32543196 | G | T |
| rs7902708 | 24430505 | 6711 | SPTBN1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.002638474 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs7902708 | 24430505 | 22943 | DKK1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.001357209 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs7902708 | 24430505 | 84870 | RSPO3 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs7902708 | 24430505 | 51384 | WNT16 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000542884 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs7902708 | 24430505 | 55094 | GPATCH1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs7902708 | 24430505 | 65084 | TMEM135 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.000271442 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs7902708 | 24430505 | 2099 | ESR1 | umls:C0029456 | BeFree | Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). | 0.154263043 | 2015 | LOC105378305 | 10 | 52679968 | G | C |
| rs8095315 | 17903295 | 284274 | SMIM21 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 18 | 75731727 | A | G |
| rs9307998 | 17903295 | 9693 | RAPGEF2 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 4 | 160038858 | A | G |
| rs9307999 | 17903295 | 9693 | RAPGEF2 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | NA | 4 | 160038942 | C | T |
| rs952658 | 17903295 | 53919 | SLCO1C1 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | SLCO1C1 | 12 | 20712367 | G | A |
| rs974673 | 17903295 | 112399 | EGLN3 | umls:C0029456 | GAD | [Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are] | 0.002367032 | 2007 | LOC102724945 | 14 | 34011308 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:92) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 1 | 112192122 | rs494453 | T | C | rs494453 | 20548944 | 4.00E-08 | NW, men & women | NA | NA | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs494453-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 54684557 | rs11898505 | A | G | rs11898505 | 24430505 | 4.00E-13 | (BUA) | 0.06 | [0.05-0.08] unit decrease | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 2 | 54684557 | rs11898505 | A | G | rs11898505 | 24430505 | 6.00E-06 | (VOS) | 0.05 | [0.03-0.07] unit decrease | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 2 | 85733192 | rs17792131 | C | T | rs17792131 | 20548944 | 2.96E-06 | NA | NA | NA | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 2 | 101668857 | rs2278729 | G | A | rs2278729 | 20548944 | 1.00E-07 | NA | 0.19 | [NA] unit decrease | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs2278729-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 2 | 198962243 | rs7595412 | G | A | rs7595412 | 18776929 | 2.00E-06 | 5 | [NA] cm2 increase in hip bone size on women | 501 women; 499 men | NOPOP(1000) | ALL(1000) | NOPOP(1000) | ALL(1000) | Hip bone size | HPOID:0003272 | Abnormality of the hip bone | DOID:11476 | osteoporosis | D010024 | Osteoporosis | NA | NA | Osteoporosis | rs7595412-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | |
| 2 | 200676926 | rs7605378 | A | C | rs7605378 | 21573128 | 2.00E-08 | NA | 1.25 | [1.16-1.35] | 190 Japanese ancestry cases; 1,557 Japanese ancestry controls | Japanese(1747) | ALL(1747) | ASN(1747) | ALL(1747) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | NA | Research Support, Non-U.S. Gov't | A | FONG |
| 2 | 224274622 | rs16864755 | G | A | rs16864755 | 20200953 | 4.00E-06 | Femoral Neck BMD | 0.24 | [0.14-0.34] cm3 increase | 2,073 related women | NOPOP(2073) | ALL(2073) | NOPOP(2073) | ALL(2073) | Osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | G | NA |
| 2 | 235210727 | rs12151790 | G | A | rs12151790 | 20548944 | 5.00E-07 | FN BMD, women | 0.4 | [NA] g/cm2 increase | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs12151790-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 3 | 168971231 | rs784288 | A | G | rs784288 | 23349225 | 4.00E-08 | NA | 1.39 | [1.24-1.56] | 288 Korean ancestry cases; 1,139 Korean ancestry controls | Korean(1427) | ALL(1427) | ASN(1427) | ALL(1427) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs784288-A | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
| 5 | 125918148 | rs13182402 | A | G | rs13182402 | 20072603 | 2.00E-09 | NA | 2.25 | [1.72-2.94] | 350 Han Chinese cases; 350 Han Chinese controls | Han Chinese(700) | ALL(700) | ASN(700) | ALL(700) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs13182402-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G,A |
| 6 | 87113172 | rs6919366 | G | T | rs6919366 | 22072498 | 9.30E-07 | PC2 - Femoral cross-sectional geometry (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 87136164 | rs9362320 | C | T | rs9362320 | 22072498 | 6.00E-07 | PC2 - Femoral cross-sectional geometry (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 87136247 | rs9362321 | C | T | rs9362321 | 22072498 | 4.30E-08 | PC2 - Femoral cross-sectional geometry (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 87138115 | rs9351097 | G | T | rs9351097 | 22072498 | 3.40E-08 | PC2 - Femoral cross-sectional geometry (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 6 | 87140425 | rs9362322 | T | A | rs9362322 | 22072498 | 9.30E-08 | PC2 - Femoral cross-sectional geometry (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 87496480 | rs12665525 | T | C | rs12665525 | 22072498 | 3.20E-05 | PC4 - Femoral shaft stability | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 6 | 87500866 | rs6911565 | C | A | rs6911565 | 22072498 | 1.10E-05 | PC4 - Femoral shaft stability | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 6 | 127468274 | rs7741021 | A | C | rs7741021 | 24430505 | 1.00E-19 | (VOS) | 0.06 | [0.05-0.08] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 127468274 | rs7741021 | A | C | rs7741021 | 24430505 | 4.00E-08 | (BMD-DXA) | NA | NA | 4,556 European ancestry individuals | European(4556) | ALL(4556) | EUR(4556) | ALL(4556) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
| 6 | 127468274 | rs7741021 | A | C | rs7741021 | 24430505 | 9.00E-21 | (BUA) | 0.06 | [0.05-0.07] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 151901802 | rs4869739 | A | T | rs4869739 | 24430505 | 1.93E-09 | (BUA) | 0.06 | [0.05-0.08] unit decrease | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 151901802 | rs4869739 | A | T | rs4869739 | 24430505 | 3.00E-18 | (VOS) | 0.07 | [0.06-0.09] unit decrease | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 152008780 | rs3020331 | C | T | rs3020331 | 24430505 | 2.91E-09 | (BUA) | 0.05 | [0.04-0.06] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 152008780 | rs3020331 | C | T | rs3020331 | 24430505 | 3.00E-09 | (BUA) | 0.06 | [0.04-0.07] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 152008780 | rs3020331 | C | T | rs3020331 | 24430505 | 6.64E-15 | (VOS) | 0.06 | [0.05-0.08] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 152008780 | rs3020331 | C | T | rs3020331 | 24430505 | 7.00E-15 | (VOS) | 0.07 | [0.05-0.08] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 152059563 | rs2982552 | G | A | rs2982552 | 24430505 | 1.21E-04 | (BMD-DXA) | NA | NA | 4,556 European ancestry individuals | European(4556) | ALL(4556) | EUR(4556) | ALL(4556) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
| 6 | 152059563 | rs2982552 | G | A | rs2982552 | 24430505 | 2.00E-10 | (BUA) | 0.05 | [0.04-0.07] unit decrease | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 6 | 152059563 | rs2982552 | G | A | rs2982552 | 24430505 | 7.32E-16 | (VOS) | 0.06 | [0.05-0.07] unit decrease | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 27780476 | rs11520772 | A | T | rs11520772 | 24430505 | 2.86E-04 | (BUA) | 0.04 | [0.02-0.06] unit decrease | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 38110073 | rs6974574 | A | T | rs6974574 | 24430505 | 3.89E-05 | (VOS) | 0.06 | [0.04-0.07] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 38110073 | rs6974574 | A | T | rs6974574 | 24430505 | 8.25E-05 | (BUA) | 0.05 | [0.03-0.06] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 76390970 | rs38664 | T | C | rs38664 | 24430505 | 1.00E-07 | (VOS) | 0.05 | [0.03-0.07] unit decrease | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 76390970 | rs38664 | T | C | rs38664 | 24430505 | 3.25E-04 | (BUA) | 0.04 | [0.02-0.05] unit decrease | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 107973297 | rs6975557 | A | G | rs6975557 | 23593202 | 1.56E-04 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 7 | 107973297 | rs6975557 | A | G | rs6975557 | 23593202 | 5.00E-08 | AAM-W, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 7 | 107991567 | rs13230316 | C | G | rs13230316 | 23593202 | 1.22E-07 | AAM-W, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 7 | 107991567 | rs13230316 | C | G | rs13230316 | 23593202 | 3.67E-04 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 7 | 120962164 | rs2908007 | A | G | rs2908007 | 24430505 | 1.00E-09 | (BMD-DXA) | 0.14 | [0.09-0.18] unit increase | 4,556 European ancestry individuals | European(4556) | ALL(4556) | EUR(4556) | ALL(4556) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | rs2908007-G | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
| 7 | 120962164 | rs2908007 | A | G | rs2908007 | 24430505 | 2.00E-59 | (VOS) | 0.15 | [0.13-0.17] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 7 | 120962164 | rs2908007 | A | G | rs2908007 | 24430505 | 4.00E-35 | (BUA) | 0.14 | [0.12-0.16] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 8 | 119977792 | rs2062375 | G | C | rs2062375 | 20548944 | 3.00E-11 | (LS BMD, women) | 0.14 | [NA] g/cm2 increase | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs2062375-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 10 | 54439728 | rs7902708 | G | C | rs7902708 | 24430505 | 1.00E-08 | (BUA) | 0.07 | [0.05-0.10] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 10 | 54439728 | rs7902708 | G | C | rs7902708 | 24430505 | 5.00E-15 | (VOS) | 0.09 | [0.07-0.12] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 11 | 2128309 | rs4929957 | G | A | rs4929957 | 23593202 | 6.26E-06 | AAM-CT, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 2138139 | rs6578985 | A | G | rs6578985 | 23593202 | 3.00E-06 | AAM-CT, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 2138139 | rs6578985 | A | G | rs6578985 | 23593202 | 6.00E-06 | AAM-CT, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 2138152 | rs6578986 | A | G | rs6578986 | 23593202 | 6.81E-06 | AAM-CT, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 2141586 | rs6578987 | C | T | rs6578987 | 23593202 | 2.96E-06 | AAM-CT, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 15952294 | rs11023787 | C | T | rs11023787 | 21104366 | 5.00E-16 | NA | NA | NA | 1,000 Caucasian individuals | Caucasian(1000) | ALL(1000) | EUR(1000) | ALL(1000) | Wrist bone mass | HPOID:0003019 | Abnormality of the wrist | DOID:11476 | osteoporosis | D015519 | Bone Density | EFOID:0004512 | bone measurement | Osteoporosis | rs11023787-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 39327959 | rs12808199 | G | A | rs12808199 | 20548944 | 9.00E-07 | FN BMD, men | 0.21 | [NA] g/cm2 decrease | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs12808199-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 11 | 61570783 | rs174547 | T | C | rs174547 | 22960237 | 2.00E-07 | Males + Females | NA | NA | 825 Chinese ancestry females; 802 Chinese ancestry males | Chinese(1627) | ALL(1627) | ASN(1627) | ALL(1627) | Comprehensive strength and appendicular lean mass | HPOID:0005339 | Abnormality of complement system | DOID:11476 | osteoporosis | D006620 | Hip Fractures | NA | NA | Osteoporosis | rs174547-C | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 11 | 61571382 | rs174549 | G | A | rs174549 | 22960237 | 8.00E-07 | Males | NA | NA | 825 Chinese ancestry females; 802 Chinese ancestry males | Chinese(1627) | ALL(1627) | ASN(1627) | ALL(1627) | Comprehensive strength and appendicular lean mass | HPOID:0005339 | Abnormality of complement system | DOID:11476 | osteoporosis | D006620 | Hip Fractures | NA | NA | Osteoporosis | rs174549-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 11 | 86853997 | rs597319 | A | G | rs597319 | 24430505 | 3.05E-04 | (BMD-DXA) | NA | NA | 4,556 European ancestry individuals | European(4556) | ALL(4556) | EUR(4556) | ALL(4556) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
| 11 | 86853997 | rs597319 | A | G | rs597319 | 24430505 | 5.00E-26 | (VOS) | 0.07 | [0.06-0.08] unit decrease | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 11 | 86853997 | rs597319 | A | G | rs597319 | 24430505 | 8.00E-14 | (BUA) | 0.06 | [0.04-0.07] unit decrease | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 11 | 87226475 | rs7929583 | T | C | rs7929583 | 23593202 | 2.89E-05 | AAM-BR, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87226475 | rs7929583 | T | C | rs7929583 | 23593202 | 4.08E-05 | AAM-BR, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87226744 | rs10898723 | C | T | rs10898723 | 23593202 | 3.69E-05 | AAM-BR, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87226744 | rs10898723 | C | T | rs10898723 | 23593202 | 6.12E-05 | AAM-BR, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87226744 | rs10898723 | C | T | rs10898723 | 23593202 | 9.25E-05 | AAM-W, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87226744 | rs10898723 | C | T | rs10898723 | 23593202 | 9.56E-05 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87229524 | rs12146626 | G | A | rs12146626 | 23593202 | 2.72E-05 | AAM-BR, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87229524 | rs12146626 | G | A | rs12146626 | 23593202 | 3.51E-05 | AAM-BR, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87229524 | rs12146626 | G | A | rs12146626 | 23593202 | 4.83E-05 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 11 | 87229524 | rs12146626 | G | A | rs12146626 | 23593202 | 5.26E-05 | AAM-W, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 13 | 32485542 | rs372 | A | G | rs372 | 20548944 | 5.28E-05 | NA | NA | NA | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 13 | 42951449 | rs9533090 | C | T | rs9533090 | 24430505 | 1.40E-05 | (VOS) | 0.09 | [0.06-0.13] unit decrease | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 13 | 110971066 | rs4773155 | A | C | rs4773155 | 22072498 | 2.50E-08 | PC4 - Femoral shaft stability (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 13 | 110982419 | rs4447275 | G | A | rs4447275 | 22072498 | 5.30E-07 | PC4 - Femoral shaft stability (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 14 | 33273511 | rs10148694 | C | T | rs10148694 | 22072498 | 2.40E-05 | PC2 - Femoral cross-sectional geometry | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C |
| 14 | 33277871 | rs7158720 | C | A | rs7158720 | 22072498 | 1.40E-07 | PC2 - Femoral cross-sectional geometry | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 14 | 33277871 | rs7158720 | C | A | rs7158720 | 22072498 | 4.10E-05 | PC2 - Femoral cross-sectional geometry (female) | NA | NA | 8481 European ancestry individuals | European(8481) | ALL(8481) | EUR(8481) | ALL(8481) | Bone mineral density and osteoporosis-related phenotypes | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A |
| 16 | 86707769 | rs7188801 | G | A | rs7188801 | 24430505 | 8.00E-06 | (VOS) | 0.05 | [0.03-0.07] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 17 | 25607692 | rs16965654 | G | A,C,T | rs16965654 | 20548944 | 4.15E-08 | NA | NA | NA | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 18 | 21938658 | rs7227401 | T | G | rs7227401 | 20548944 | 4.00E-07 | NW, men | 0.17 | [NA] cm increase | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs7227401-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 18 | 67142857 | rs17184557 | T | A | rs17184557 | 20548944 | 9.00E-07 | LS BMD, women | 0.13 | [NA] g/cm2 increase | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | rs17184557-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| 19 | 29012921 | rs8113142 | T | C | rs8113142 | 23593202 | 5.00E-06 | AAM-CT, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 19 | 29035556 | rs4141232 | T | C | rs4141232 | 23593202 | 1.02E-05 | AAM-BR, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 19 | 29035556 | rs4141232 | T | C | rs4141232 | 23593202 | 2.00E-07 | AAM-CT, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 19 | 29035556 | rs4141232 | T | C | rs4141232 | 23593202 | 9.00E-06 | AAM-BR, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 19 | 29035556 | rs4141232 | T | C | rs4141232 | 23593202 | 9.31E-06 | AAM-BR, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 19 | 29130465 | rs4805257 | C | T | rs4805257 | 23593202 | 1.40E-05 | AAM-CT, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| 19 | 33605300 | rs10416265 | A | G | rs10416265 | 24430505 | 2.00E-13 | (BUA) | 0.06 | [0.05-0.08] unit increase | 730 East Asian ancestry individuals; 2,380 European ancestry individuals; 11,150 individuals | NOPOP(11150) | East Asian(730) | European(2380) | ALL(14260) | NOPOP(11150) | ASN(730) | EUR(2380) | ALL(14260) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 19 | 33605300 | rs10416265 | A | G | rs10416265 | 24430505 | 4.00E-12 | (VOS) | 0.06 | [0.04-0.08] unit increase | 2,483 East Asian ancestry individuals; 1,885 European ancestry individuals; 11,146 individuals | NOPOP(11146) | East Asian(2483) | European(1885) | ALL(15514) | NOPOP(11146) | ASN(2483) | EUR(1885) | ALL(15514) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis |
| 20 | 33703607 | rs3746429 | C | T | rs3746429 | 24430505 | 4.35E-04 | (BMD-DXA) | NA | NA | 4,556 European ancestry individuals | European(4556) | ALL(4556) | EUR(4556) | ALL(4556) | Bone properties (heel) | HPOID:0000939 | Osteoporosis | DOID:11476 | osteoporosis | NA | NA | NA | NA | Osteoporosis | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
| 22 | 47198055 | rs710122 | G | A | rs710122 | 20548944 | 7.33E-06 | NA | NA | NA | 2,038 European ancestry women; 1,531 European ancestry men | European(3569) | ALL(3569) | EUR(3569) | ALL(3569) | Osteoporosis | HPOID:0005653 | Moderate generalized osteoporosis | DOID:11476 | osteoporosis | D010024 | Osteoporosis | EFOID:0003882 | osteoporosis | Osteoporosis | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
| X | 148404622 | rs4844014 | A | C | rs4844014 | 23593202 | 3.27E-04 | AAM-W, EA | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| X | 148404622 | rs4844014 | A | C | rs4844014 | 23593202 | 4.94E-05 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| X | 148477956 | rs5980450 | A | G | rs5980450 | 23593202 | 4.60E-05 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
| X | 148486762 | rs7064959 | G | A | rs7064959 | 23593202 | 5.77E-05 | AAM-W, Chinese | NA | NA | 1,728 European ancestry individuals | European(1728) | ALL(1728) | EUR(1728) | ALL(1728) | Femoral neck bone geometry and menarche (age at onset) | HPOID:0000939 | HPOID:0003367 | Osteoporosis | Abnormality of the femoral neck | DOID:11476 | osteoporosis | NA | NA | EFOID:0004704 | age at menopause | Osteoporosis | NA | Research Support, N.I.H., Extramural |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:12) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0029456 | arsenic trioxide | C006632 | 1327-53-3 | osteoporosis | MESH:D010024 | marker/mechanism | 24531206 | ||
| C0029456 | caffeine | D002110 | 1958/8/2 | osteoporosis | MESH:D010024 | marker/mechanism | 19325779 | ||
| C0029456 | enalapril | D004656 | 75847-73-3 | osteoporosis | MESH:D010024 | therapeutic | 18847324 | ||
| C0029456 | teriparatide | D019379 | 52232-67-4 | osteoporosis | MESH:D010024 | therapeutic | 17317460 | ||
| C0029456 | levonorgestrel | D016912 | 797-63-7 | osteoporosis | MESH:D010024 | therapeutic | 12665316 | ||
| C0029456 | pamidronate | C019248 | 40391-99-9 | osteoporosis | MESH:D010024 | therapeutic | 14964460 | ||
| C0029456 | parathyroid hormone | D010281 | - | osteoporosis | MESH:D010024 | therapeutic | 19463752 | ||
| C0029456 | propranolol | D011433 | 525-66-6 | osteoporosis | MESH:D010024 | therapeutic | 24250662 | ||
| C0029456 | tenofovir | D000068698 | - | osteoporosis | MESH:D010024 | marker/mechanism | 20923957 | ||
| C0029456 | terfenadine | D016593 | 50679-08-8 | osteoporosis | MESH:D010024 | therapeutic | 15872215 | ||
| C0029456 | tretinoin | D014212 | 302-79-4 | osteoporosis | MESH:D010024 | marker/mechanism | 21835177 | ||
| C0029456 | zoledronic acid | C088658 | - | osteoporosis | MESH:D010024 | therapeutic | 17882678 | ||
FDA approved drug and dosage information(Total Drugs:4) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D010024 | zometa | zoledronic acid | EQ 4MG BASE/VIAL Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | INJECTABLE;IV (INFUSION) | Discontinued | None | Yes | No |
| MESH:D010024 | zometa | zoledronic acid | EQ 4MG BASE/VIAL | INJECTABLE; IV (INFUSION) | Prescription | None | No | No |
| MESH:D010024 | mirena | levonorgestrel | 52MG | INTRAUTERINE DEVICE;INTRAUTERINE | Prescription | None | Yes | Yes |
| MESH:D010024 | levonorgestrel | levonorgestrel | 75MG/IMPLANT | IMPLANT;IMPLANTATION | Discontinued | None | No | No |
FDA labeling changes(Total Drugs:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D010024 | 03/20/2008 | zometa | zoledronic acid | Severe osteogenesis imperfecta | Zoledronic acid is not indicated for use in children Safety and effectiveness was studied in 152 pediatric patients with severe osteogenesis imperfecta aged 1 - 17 years. At one year, increases in BMD were observed in the zoledronic acid treatment group but the changes did not necessarily correlate with the risk for fracture or the incidence or severity of chronic bone pain Information on PK, clinical study, and AE profile | Labeling | B | - | - | - | Novartis | 12/21/2007 | FALSE' |
| MESH:D010024 | 03/20/2008 | zometa | zoledronic acid | Severe osteogenesis imperfecta | Zoledronic acid is not indicated for use in children Safety and effectiveness was studied in 152 pediatric patients with severe osteogenesis imperfecta aged 1 - 17 years. At one year, increases in BMD were observed in the zoledronic acid treatment group but the changes did not necessarily correlate with the risk for fracture or the incidence or severity of chronic bone pain Information on PK, clinical study, and AE profile | Labeling | B | - | - | - | Novartis | 12/21/2007 | FALSE' |
| MESH:D010024 | 1/10/2009 | mirena | levonorgestrel-releasing intrauterine system | Treatment of heavy menstrual bleeding for women using intrauterine contraception | New indication for the treatment of heavy menstrual bleeding for women who choose to use intrauterine contraception Use before menarche is not indicated | Labeling | - | P | - | - | Berlex | - | TRUE' |
| MESH:D010024 | 10/7/2009 | plan b one step | levonorgestrel | Emergency contraception - OTC in women 17 years and older; RX for women younger than age 17 years | New single dose 1.5 mg tablet New dosage regimen | Labeling | - | P | - | - | Duramed | - | FALSE' |