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rs72549397

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs72549397(C;T)
Make rs72549397(T;T)
ReferenceGRCh37 37.1/132
Chromosome2
Position169788931
GeneABCB11
is asnp
is mentioned by
dbSNPrs72549397
ebirs72549397
HLIrs72549397
Exacrs72549397
Varsomers72549397
Maprs72549397
PheGenIrs72549397
hapmaprs72549397
1000 genomesrs72549397
hgdprs72549397
ensemblrs72549397
gopubmedrs72549397
geneviewrs72549397
scholarrs72549397
googlers72549397
pharmgkbrs72549397
gwascentralrs72549397
openSNPrs72549397
23andMers72549397
23andMe allrs72549397
SNP Nexus

SNPshotrs72549397
SNPdbers72549397
MSV3drs72549397
GWAS Ctlgrs72549397
Max Magnitude0
OMIM603201
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72549397(A;A)
Alt rs72549397(A;A)
Reference rs72549397(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.169788931G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006975.2,