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rs281874713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874713(G;T)
Make rs281874713(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655431
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874713
ebirs281874713
HLIrs281874713
Exacrs281874713
Varsomers281874713
Maprs281874713
PheGenIrs281874713
hapmaprs281874713
1000 genomesrs281874713
hgdprs281874713
ensemblrs281874713
gopubmedrs281874713
geneviewrs281874713
scholarrs281874713
googlers281874713
pharmgkbrs281874713
gwascentralrs281874713
openSNPrs281874713
23andMers281874713
23andMe allrs281874713
SNP Nexus

SNPshotrs281874713
SNPdbers281874713
MSV3drs281874713
GWAS Ctlgrs281874713
Max Magnitude0
ClinVar
Risk rs281874713(T;T)
Alt rs281874713(T;T)
Reference rs281874713(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898661G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021500.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.