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encyclopedia of Rare Disease Annotation for Precision Medicine



   x-linked alport syndrome
  

Disease ID 1586
Disease x-linked alport syndrome
Synonym
alport syndrome x-linked
alport syndrome x-linked (disorder)
alport syndrome, x linked
alport syndrome, x-linked
nephropathy and deafness, x-linked
Orphanet
OMIM
UMLS
C1567742
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0152439  |  retinoschisis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
1287  |  COL4A5  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:59)
2182  |  ACSL4  |  1.933  |  DISEASES
186  |  AGTR2  |  3.404  |  DISEASES
57016  |  AKR1B10  |  1.232  |  DISEASES
728  |  C5AR1  |  1.062  |  DISEASES
8913  |  CACNA1G  |  1.48  |  DISEASES
1081  |  CGA  |  1.881  |  DISEASES
1120  |  CHKB  |  2.042  |  DISEASES
1269  |  CNR2  |  2.458  |  DISEASES
6900  |  CNTN2  |  1.273  |  DISEASES
1282  |  COL4A1  |  2.189  |  DISEASES
1285  |  COL4A3  |  5.536  |  DISEASES
1286  |  COL4A4  |  5.654  |  DISEASES
1287  |  COL4A5  |  7.367  |  DISEASES
1288  |  COL4A6  |  5.763  |  DISEASES
8029  |  CUBN  |  1.344  |  DISEASES
192668  |  CYS1  |  1.645  |  DISEASES
8694  |  DGAT1  |  1.193  |  DISEASES
1812  |  DRD1  |  1.296  |  DISEASES
1982  |  EIF4G2  |  2.001  |  DISEASES
2042  |  EPHA3  |  1.493  |  DISEASES
104355217  |  ERICD  |  1.057  |  DISEASES
2232  |  FDXR  |  1.947  |  DISEASES
2248  |  FGF3  |  1.398  |  DISEASES
2550  |  GABBR1  |  1.775  |  DISEASES
2569  |  GABRR1  |  2.449  |  DISEASES
2570  |  GABRR2  |  2.545  |  DISEASES
200959  |  GABRR3  |  2.667  |  DISEASES
2959  |  GTF2B  |  1.839  |  DISEASES
283902  |  HCCAT5  |  2.611  |  DISEASES
8518  |  IKBKAP  |  1.563  |  DISEASES
100144748  |  KLLN  |  2.59  |  DISEASES
378805  |  LINC-PINT  |  1.772  |  DISEASES
4158  |  MC2R  |  2.482  |  DISEASES
23077  |  MYCBP2  |  1.657  |  DISEASES
4689  |  NCF4  |  1.744  |  DISEASES
4772  |  NFATC1  |  2.177  |  DISEASES
4773  |  NFATC2  |  2.786  |  DISEASES
4776  |  NFATC4  |  2.898  |  DISEASES
9520  |  NPEPPS  |  1.49  |  DISEASES
594857  |  NPS  |  1.306  |  DISEASES
9315  |  NREP  |  2.936  |  DISEASES
4976  |  OPA1  |  1.506  |  DISEASES
5132  |  PDC  |  1.574  |  DISEASES
56342  |  PPAN  |  1.731  |  DISEASES
5573  |  PRKAR1A  |  1.043  |  DISEASES
5817  |  PVR  |  3.812  |  DISEASES
253260  |  RICTOR  |  1.173  |  DISEASES
196475  |  RMST  |  2.681  |  DISEASES
23322  |  RPGRIP1L  |  1.702  |  DISEASES
404552  |  SCGB1D4  |  1.312  |  DISEASES
145264  |  SERPINA12  |  1.105  |  DISEASES
462  |  SERPINC1  |  2.047  |  DISEASES
4093  |  SMAD9  |  2.192  |  DISEASES
342898  |  SYCN  |  2.448  |  DISEASES
1678  |  TIMM8A  |  1.583  |  DISEASES
7156  |  TOP3A  |  1.293  |  DISEASES
7177  |  TPSAB1  |  2.533  |  DISEASES
7433  |  VIPR1  |  1.426  |  DISEASES
7514  |  XPO1  |  1.013  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
COL4A5  |  Xq22.3
Disease ID 1586
Disease x-linked alport syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0030502  |  Retinoschisis  |  1
Disease ID 1586
Disease x-linked alport syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C2029884  |  hearing loss
C1962972  |  proteinuria
C0206658  |  smooth muscle tumors
C0206654  |  leiomyomatosis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:495)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104886042NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108539783G-
rs104886043NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108559083GA
rs104886044NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108563900G-
rs104886045NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108568645C-
rs104886046NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108568805G-
rs104886047NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108539754TC,G
rs104886048NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108539751CA
rs104886049NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440138GT
rs104886050NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440126AG
rs104886051NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571416GT
rs104886052NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571458GA,C
rs104886053NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571812G-
rs104886054NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571818C-
rs104886055NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573628GC
rs104886056NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573637GC,T
rs104886057NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575956GA
rs104886058NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573641C-
rs104886059NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575911GT
rs104886060NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575937GA
rs104886061NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575947GA
rs104886062NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575965GC,T
rs104886063NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108577953GA,T
rs104886065NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108577976C-
rs104886066NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108577980GA
rs104886067NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578078GA
rs104886068NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578319GA
rs104886069NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580542GC
rs104886070NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580543GA
rs104886071NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580548CG,T
rs104886072NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580564C-
rs104886073NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580721GC
rs104886074NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578079GT
rs104886075NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578087GA
rs104886076NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578291GC
rs104886077NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578292G-
rs104886078NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580722GT
rs104886079NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580731GA
rs104886080NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580983GA
rs104886081NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108581004GT
rs104886082NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108581011GA
rs104886083NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108581019GA
rs104886084NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582884GA
rs104886085NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582902GC
rs104886086NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582903GA
rs10488608813769651287COL4A5umls:C1567742BeFreeSubstitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.0.5754721871992COL4A5X108582920GA,T
rs104886088NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582920GA,T
rs104886091NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582921GA
rs104886092NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108584485GT
rs104886093NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108584494GT
rs104886094NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586699CT
rs104886095NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586656A-
rs104886096NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586676GA
rs104886097NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586694GA
rs104886098NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586721GA
rs104886099NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591100GT
rs104886100NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591109GT
rs104886101NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591118GA
rs104886102NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591127GT
rs104886103NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591135GA
rs104886104NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591146T-
rs104886105NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586730GA
rs104886107NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591091GA
rs104886108NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586703GC
rs104886109NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591157C-
rs104886110NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591160GA
rs104886111NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591168GA
rs104886112NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591178GA
rs104886113NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591597C-
rs104886114NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591618GA
rs104886115NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591627GA
rs104886116NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591635GA
rs104886117NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595557GA
rs104886118NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595566GA
rs104886119NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597052GA
rs104886120NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595574GT
rs104886121NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597042GA,T
rs104886122NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597043GA
rs104886123NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597047A-
rs104886124NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597069G-
rs104886125NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597396GA
rs104886126NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597422GC
rs104886127NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597423GT
rs104886128NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597442C-
rs104886129NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597461GC
rs104886130NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597525GA
rs104886131NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598702GA
rs104886132NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598705GA
rs104886133NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598730GT
rs104886134NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598835GA,C,T
rs104886135NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598747GC
rs104886136NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597470GA
rs104886137NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597489GC
rs104886138NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597507GA
rs104886139NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597524GA
rs104886140NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598748GT
rs104886141NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598783GT
rs104886142NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598793GA
rs104886143NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598799GC
rs104886144NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598808GA
rs104886145NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598817GA
rs104886146NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598819GA
rs104886147NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598834GA
rs104886150NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601401GA
rs104886151NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601450GC
rs104886152NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601404G-
rs104886153NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601441GA,T
rs104886156NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601462G-
rs104886157NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601467GA
rs104886158NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601885GA
rs104886159NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601893GT
rs104886160NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601894GT
rs104886161NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601989GC
rs104886162NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108602964G-
rs104886163NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108602982GA
rs104886164106843601287COL4A5umls:C1567742UNIPROTMutational analysis of the COL4A5 gene in X-linked Alport syndrome (AS) requires an expensive and time-consuming procedure with a detection rate of 50%, at best.0.5754721872000COL4A5X108603032CG,T
rs104886164NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108603032CG,T
rs104886165NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108603036GA
rs104886166NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108603045GA
rs104886167NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601900C-
rs104886168NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601903GA
rs104886169NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601941GT
rs104886171NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606784GA
rs104886172NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606794GA
rs104886173NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606812GA,C
rs104886174NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606829GA
rs104886175NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606845C-
rs104886176NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606857GC,T
rs104886177NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606883GA
rs104886178NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606894T-
rs104886179NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614919GA
rs104886180NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614938GA
rs104886181NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620259G-
rs104886182NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614946GA
rs104886183NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614947GT
rs104886184NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614979GC
rs104886185NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108615024GA
rs104886186NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620303GA
rs104886187NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620304GA
rs104886188NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620346GA
rs104886189NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620354GA
rs104886190NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620363GC
rs104886191NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620373GA
rs104886192NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621817AG
rs104886193NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621871AG
rs104886194NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622696CT
rs104886195NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622712GA
rs104886196NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622729GT
rs104886197NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622754C-
rs104886198NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620374A-
rs104886199NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620382GT
rs104886200NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620392G-
rs104886201NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620409GT
rs104886202NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625705GT
rs104886204NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108624261A-
rs104886206NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108624283G-
rs104886207NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625734CT
rs104886208NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625745T-
rs104886209NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625768GT
rs104886210NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625776GA
rs104886211NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625732GT
rs104886212NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626210GT
rs104886213NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626284CT
rs104886214NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626218GA
rs104886215NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626237GA
rs104886216NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626272GT
rs104886217NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626281GT
rs104886218NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626291GT
rs104886219NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626299GA,C,T
rs104886221NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626300GC
rs104886222NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626315CG
rs104886223NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655331GA
rs104886224NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655395GT
rs104886225NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655403GA
rs104886226NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655415A-
rs104886227NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108665546C-
rs104886228NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108665560GA
rs104886229NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108665561GA
rs104886231NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655340GC
rs104886232NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655341GA
rs104886233NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655373AT
rs104886234NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666515G-
rs104886235NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666522GA
rs104886236NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666540GA
rs104886237NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666549GA
rs104886238NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666550G-
rs104886239NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666568G-
rs104886240NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666576GA
rs104886241NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666579CT
rs104886242NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666585GC
rs104886244NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108667165GA
rs104886245NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668327GA,T
rs104886246NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668345GC
rs104886247NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668346GA
rs104886248NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668355GA
rs104886249NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668361C-
rs104886250NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668408GA
rs104886251NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668373GA
rs104886252NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668382GT
rs104886253NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668400GA
rs104886254NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668406C-
rs104886255NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668435GT
rs104886256NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668505G-
rs104886257NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108677517GA
rs104886258NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108677523C-
rs104886259NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108677629T-
rs104886260NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680712AT
rs104886261NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668445GA
rs104886262NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668468GA
rs104886263NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668477GA
rs104886264NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668496GA
rs104886265NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680746T-
rs104886266NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680751GA
rs104886267NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680956GA,T
rs104886268NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681761T-
rs104886269NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681826GT
rs104886270NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686060CT
rs104886272NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686093GT
rs104886273NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686111GC,T
rs104886274NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686112GA,C,T
rs104886275NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687533C-
rs104886276NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687508GC
rs104886277NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687509GA,C
rs104886279NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687526GA
rs104886280NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687535GA
rs104886281NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687621A-
rs104886282NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687641GC
rs104886283NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687647CT
rs104886284NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687677CA
rs104886286NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692924CT
rs104886287NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694809GA,C
rs104886288NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694817TC
rs104886289NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694874TC
rs104886290NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694875GT
rs104886291NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694884GT
rs104886292NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692800CA
rs104886293NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692850GA,C
rs104886294NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692851GA
rs104886296NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694886TG
rs104886297NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694905GA
rs104886298NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694908AG
rs104886299NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694909TA
rs104886300NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694921GA
rs104886301NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695295G-
rs104886302NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695376GA
rs104886303NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695409TG
rs104886303235720341287COL4A5umls:C1567742BeFreeThe L1649R mutation in the COL4A5 gene causes a relatively mild form of XLAS characterized by late-onset renal failure and less frequent, severe temporal macular thinning relative to other COL4A5 mutations.0.5754721872013COL4A5X108695409TG
rs104886304NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695431C-
rs104886305NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695439GA
rs104886306NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696349CT
rs104886307NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696354T-
rs104886308NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696350GA,C,T
rs104886310NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696352TC
rs104886311NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696354TG
rs104886312NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591645GA
rs104886313NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597069GA
rs104886314NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108584528AAGT-
rs104886315NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108584530GT
rs104886316NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586644-T
rs104886317NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586748GA
rs104886319NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591559AG
rs104886320NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591571AT-
rs104886321NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591587CCAGGCCCC-
rs104886323NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108559063GA
rs104886324NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586749TG
rs104886325NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591106-A
rs104886327NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591172-A
rs104886329NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595508GA
rs104886331NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595602GA
rs104886332NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108596997GT
rs104886333NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597023AG-
rs104886336NA1287COL4A5umls:C1567742CLINVARNA0.575472187NANANANANANA
rs104886337NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597569GT
rs104886338NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598701GA,T
rs104886339NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598871GA
rs104886340NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601486GT
rs104886341NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601867AG
rs104886342NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601957-CAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAACCAGGTATCCCTGG
rs104886343NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601992AC
rs104886344NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108602962AG
rs104886345NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108602961CG
rs104886346NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108603023GAAGGCCCTCCTGGGCCACCC-
rs104886347NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108603063TG
rs104886348NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606741GA
rs104886349NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108559154GA
rs104886350NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108563881GA,T
rs104886351NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606819-A
rs104886355NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620344AGGGATCCCCGGAGCACC-
rs104886356NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614979GGACCACCA-
rs104886358NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620226AG
rs104886359NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620299TCCTGGACTTGATGTTCCAGGACC-
rs104886360NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621793TG
rs104886361NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621830GA
rs104886362NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621833-C
rs104886363NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621857GA
rs104886365NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108563931GA
rs104886366NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621894T-
rs104886367NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108568628GT
rs104886368NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622710-T
rs104886369NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622731TAG-
rs104886370NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622748GA
rs104886371NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622826GC,T
rs104886372NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108624235GT
rs104886374NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108624277CCTGGAGACCCAGGGCAA-
rs104886375NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108568758GA
rs104886376NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440127TG-
rs104886377NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108624335GT
rs104886378NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625704GA
rs104886379NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626208AG
rs104886380NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655421-CCTG
rs104886381NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108667132GA
rs104886382NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108667130CG
rs104886383NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108667124CG
rs104886384NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668318GA
rs104886385NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668317AG
rs104886387NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108665496CA
rs104886388NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666487AG
rs104886389NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666513GT
rs104886390NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108568788ACCTCAAGG-
rs104886391NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668371AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC-
rs104886392NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668424-CC
rs104886393NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668424CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC-
rs104886394NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668471-GGCA
rs104886395NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571412GC
rs104886396NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108570694GA
rs104886397NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680883AG,T
rs104886403NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681792AG-
rs104886405NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681867CT
rs104886408NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440166-TCTT
rs104886409NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681886-C
rs104886412NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687491GTTTGGATGGTCCCCCTGGTCCAGATG-
rs104886413NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687695GC
rs104886414NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573562GA
rs104886415NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573557TG
rs104886416NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573572AG
rs104886418NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687510-T
rs104886419NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571813-C
rs104886420NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687620GA-
rs104886421NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687675AG-
rs104886423NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695042TC
rs104886426NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696314CGCTGAAA-
rs104886427NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440174CT-
rs104886429NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573655GA
rs104886430NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573657-T
rs104886431NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575909GA
rs104886432NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575910-C,G
rs104886433NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575913-C
rs104886434NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575973GA
rs104886435NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108577952GGCCCTCCTGGTCCACCAG-
rs104886436NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578066TT-
rs104886437NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578075CA
rs104886438NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578080-G,GG
rs104886440NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578120GA
rs104886441NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578288CG
rs104886442NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580591GT
rs104886443NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578364AG-
rs104886444NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578385TG
rs104886445NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580532GGGACTT-
rs104886446NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580587GA
rs104886447NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580706GT
rs104886448NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582883GA
rs104886449NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582892-T
rs104886450NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580713GT
rs104886451NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580739GA
rs104886452NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580982GC
rs104886453NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580981AG
rs144282156NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686096CT
rs201220208NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692786CA
rs281874655NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586642-A
rs281874656NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586666GA
rs281874657NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108586717CT
rs281874658NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591073G-
rs281874659NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591105-A
rs281874660NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591108GA
rs281874661NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591111CT
rs281874662NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591114AT
rs281874663NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591151GA
rs281874664NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591186GA
rs281874666NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591597-C
rs281874667NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108591644GA
rs281874668NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595489TA
rs281874669NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108559064GA
rs281874670NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108595583GC
rs281874671NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597378GA
rs281874672NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597387GA
rs281874673NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597432GA
rs281874674NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597479GT
rs281874675NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597515GA
rs281874676NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597527CT
rs281874677NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597533GA
rs281874678NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597546TTCCTGGCCCGAAA-
rs281874679NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108597571GC
rs281874680NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598757GA
rs281874681NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598778CT
rs281874682NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598805CA,T
rs281874683NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598826GA
rs281874684NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601449GC
rs281874685NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108601458GC
rs281874686NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108602972GC
rs281874687NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108602981GC,T
rs281874688NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108603062GT
rs281874689NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606785GA
rs281874690NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606802GA
rs281874691NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108606891AG
rs281874692NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614988GT
rs281874694NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614991C-
rs281874695NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614998GA
rs281874696NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108615015GC
rs281874697NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620327GC
rs281874698NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620372GC
rs281874699NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108620408GC
rs281874700NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621811G-
rs281874701NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621821GTATGATGGG-
rs281874702NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621821GT
rs281874703NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621847GA
rs281874704NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621856GA
rs281874705NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622690CT
rs281874706NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108568638GA
rs281874708NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108624265T-
rs281874710NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108625734C-
rs281874711NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626270C-
rs281874712NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626309GT
rs281874713NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655431GT
rs281874714NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655458GA
rs281874715NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108665588GT
rs281874716NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108666584GGGTGAA-
rs281874717NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108667166GA
rs281874718NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668406-C
rs281874719NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668414CT
rs281874720NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668420CCCCCAGGCCCTCCTGGT
rs281874721NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108668436GT
rs281874722NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571413GA
rs281874723NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571414GA,T
rs281874724NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108677633GC
rs281874725NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680678GA
rs281874727NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681837CT
rs281874728NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681861GT
rs281874729NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681865C-
rs281874731NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686046-C
rs281874732NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686067G-
rs281874733NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686103GA
rs281874734NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687481GC
rs281874735NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687482GT
rs281874736NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687534-GGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA
rs281874737NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571459GA
rs281874738NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571468TC
rs281874739NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108571471GA
rs281874740NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687623CG
rs281874741NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108687685CT
rs281874742NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692750A-
rs281874743NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108692925GA
rs281874744NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694777ATTATGTTCCTTCTCCTTTTCCCA
rs281874745NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694808TC
rs281874746NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694820GA
rs281874747NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694869CT
rs281874748NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573584G-
rs281874749NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694898TG-
rs281874750NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695357TG
rs281874751NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695405-T
rs281874752NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696295AG
rs281874753NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696340CT
rs281874754NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108696362GT
rs281874755NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108573646GA
rs281874756NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575908AG
rs281874757NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108575936-GA
rs281874758NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108577950AG
rs281874759NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108577953GC-
rs281874760NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440190AGCCTGCAGAGGC-
rs281874761NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578097TG
rs281874762NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578114GA,T
rs281874763NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108578292GA
rs281874764NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580540C-
rs281874765NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5;COL4A6X108440207GC
rs281874766NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580713G-
rs281874767NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580720A-
rs281874768NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108580722G-
rs281874769NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108582907CA
rs397515492NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108655410-T
rs397515494NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108695116-T
rs397515495NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108614949CCTCCTGGAACCTGGACCAATGGGACCAATGGGAACAC
rs397515496NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108621803GT
rs397515497NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108626206AG
rs483352870NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108677634GC
rs587776400NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680677AG
rs587776401NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680957GA,C
rs587776402NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686030GA
rs587776403NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108686130GA
rs587776404NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694922GA
rs606231370NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108677578-AACC
rs606231371NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108681851-TCCT
rs606231374NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108694868CCCCATT-
rs672601246NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108665536ATTAGTGGCCCTCCTGNNN
rs78972735105611411287COL4A5umls:C1567742UNIPROTDetection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.0.5754721871999COL4A5X108622766GT
rs78972735NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108622766GT
rs794727397NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108598766GA
rs797045035NA1287COL4A5umls:C1567742CLINVARNA0.575472187NACOL4A5X108680884GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1586
Disease x-linked alport syndrome
Case(Waiting for update.)