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rs281874669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874669(A;A)
Make rs281874669(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108559064
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874669
ebirs281874669
HLIrs281874669
Exacrs281874669
Varsomers281874669
Maprs281874669
PheGenIrs281874669
hapmaprs281874669
1000 genomesrs281874669
hgdprs281874669
ensemblrs281874669
gopubmedrs281874669
geneviewrs281874669
scholarrs281874669
googlers281874669
pharmgkbrs281874669
gwascentralrs281874669
openSNPrs281874669
23andMers281874669
23andMe allrs281874669
SNP Nexus

SNPshotrs281874669
SNPdbers281874669
MSV3drs281874669
GWAS Ctlgrs281874669
Max Magnitude0
ClinVar
Risk rs281874669(A;A)
Alt rs281874669(A;A)
Reference rs281874669(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107802294G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021122.1,


[PMID 19965530OA-icon.png] Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.