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rs281874670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874670(C;C)
Make rs281874670(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595583
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874670
ebirs281874670
HLIrs281874670
Exacrs281874670
Varsomers281874670
Maprs281874670
PheGenIrs281874670
hapmaprs281874670
1000 genomesrs281874670
hgdprs281874670
ensemblrs281874670
gopubmedrs281874670
geneviewrs281874670
scholarrs281874670
googlers281874670
pharmgkbrs281874670
gwascentralrs281874670
openSNPrs281874670
23andMers281874670
23andMe allrs281874670
SNP Nexus

SNPshotrs281874670
SNPdbers281874670
MSV3drs281874670
GWAS Ctlgrs281874670
Max Magnitude0
ClinVar
Risk rs281874670(C;C)
Alt rs281874670(C;C)
Reference rs281874670(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838813G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021298.1,


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