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rs72549401

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs72549401(C;T)
Make rs72549401(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position168970131
GeneABCB11
is asnp
is mentioned by
dbSNPrs72549401
ebirs72549401
HLIrs72549401
Exacrs72549401
Varsomers72549401
Maprs72549401
PheGenIrs72549401
hapmaprs72549401
1000 genomesrs72549401
hgdprs72549401
ensemblrs72549401
gopubmedrs72549401
geneviewrs72549401
scholarrs72549401
googlers72549401
pharmgkbrs72549401
gwascentralrs72549401
openSNPrs72549401
23andMers72549401
23andMe allrs72549401
SNP Nexus

SNPshotrs72549401
SNPdbers72549401
MSV3drs72549401
GWAS Ctlgrs72549401
Max Magnitude0
OMIM603201
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72549401(A;A)
Alt rs72549401(A;A)
Reference rs72549401(G;G)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 2
Variation info
Gene ABCB11
CLNDBN Progressive familial intrahepatic cholestasis 2
Reversed 0
HGVS NC_000002.11:g.169826641G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006967.2,