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rs72552780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs72552780(A;A)
Make rs72552780(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position87453050
GeneABCB4
is asnp
is mentioned by
dbSNPrs72552780
dbSNP (classic)rs72552780
ClinGenrs72552780
ebirs72552780
HLIrs72552780
Exacrs72552780
Gnomadrs72552780
Varsomers72552780
LitVarrs72552780
Maprs72552780
PheGenIrs72552780
Biobankrs72552780
1000 genomesrs72552780
hgdprs72552780
ensemblrs72552780
geneviewrs72552780
scholarrs72552780
googlers72552780
pharmgkbrs72552780
gwascentralrs72552780
openSNPrs72552780
23andMers72552780
SNPshotrs72552780
SNPdbers72552780
MSV3drs72552780
GWAS Ctlgrs72552780
Max Magnitude0
OMIM171060
Desc
Variant0011
Relatedalso


ClinVar
Risk rs72552780(A;A) rs72552780(C;C)
Alt rs72552780(A;A) rs72552780(C;C)
Reference Rs72552780(G;G)
Significance Pathogenic
Disease Cholestasis
Variation info
Gene ABCB4
CLNDBN Cholestasis, intrahepatic, of pregnancy 3
Reversed 0
HGVS NC_000007.13:g.87082366G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014695.20,