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rs281874762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874762(G;T)
Make rs281874762(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578114
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874762
ebirs281874762
HLIrs281874762
Exacrs281874762
Varsomers281874762
Maprs281874762
PheGenIrs281874762
hapmaprs281874762
1000 genomesrs281874762
hgdprs281874762
ensemblrs281874762
gopubmedrs281874762
geneviewrs281874762
scholarrs281874762
googlers281874762
pharmgkbrs281874762
gwascentralrs281874762
openSNPrs281874762
23andMers281874762
23andMe allrs281874762
SNP Nexus

SNPshotrs281874762
SNPdbers281874762
MSV3drs281874762
GWAS Ctlgrs281874762
Max Magnitude0
ClinVar
Risk rs281874762(A,T;A,T)
Alt rs281874762(A,T;A,T)
Reference rs281874762(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821344G>T
CLNSRC ARUP COL4A5
CLNACC RCV000032054.1,


[PMID 21332469] X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.