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rs281874660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874660(A;A)
Make rs281874660(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591108
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874660
ebirs281874660
HLIrs281874660
Exacrs281874660
Varsomers281874660
Maprs281874660
PheGenIrs281874660
hapmaprs281874660
1000 genomesrs281874660
hgdprs281874660
ensemblrs281874660
gopubmedrs281874660
geneviewrs281874660
scholarrs281874660
googlers281874660
pharmgkbrs281874660
gwascentralrs281874660
openSNPrs281874660
23andMers281874660
23andMe allrs281874660
SNP Nexus

SNPshotrs281874660
SNPdbers281874660
MSV3drs281874660
GWAS Ctlgrs281874660
Max Magnitude0
ClinVar
Risk rs281874660(A;A)
Alt rs281874660(A;A)
Reference rs281874660(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834338G>A
CLNSRC ARUP COL4A5
CLNACC RCV000032057.1,


[PMID 22518824] A unique patient presenting with concomitant Klinefelter syndrome, Alport syndrome, and craniopharyngioma.