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rs72552778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552778(C;T)
Make rs72552778(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87447080
GeneABCB4
is asnp
is mentioned by
dbSNPrs72552778
ebirs72552778
HLIrs72552778
Exacrs72552778
Varsomers72552778
Maprs72552778
PheGenIrs72552778
hapmaprs72552778
1000 genomesrs72552778
hgdprs72552778
ensemblrs72552778
gopubmedrs72552778
geneviewrs72552778
scholarrs72552778
googlers72552778
pharmgkbrs72552778
gwascentralrs72552778
openSNPrs72552778
23andMers72552778
23andMe allrs72552778
SNP Nexus

SNPshotrs72552778
SNPdbers72552778
MSV3drs72552778
GWAS Ctlgrs72552778
Max Magnitude0
OMIM171060
Desc
Variant0005
Relatedalso


ClinVar
Risk rs72552778(T;T)
Alt rs72552778(T;T)
Reference rs72552778(C;C)
Significance Pathogenic
Disease Cholecystitis Cholestasis Progressive familial intrahepatic cholestasis 3
Variation info
Gene ABCB4
CLNDBN Cholecystitis Cholestasis, intrahepatic, of pregnancy 3 Progressive familial intrahepatic cholestasis 3
Reversed 1
HGVS NC_000007.13:g.87076396G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014688.24, RCV000033065.25, RCV000190560.1,