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rs121918441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918441(A;A)
Make rs121918441(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position87439761
GeneABCB4
is asnp
is mentioned by
dbSNPrs121918441
ebirs121918441
HLIrs121918441
Exacrs121918441
Varsomers121918441
Maprs121918441
PheGenIrs121918441
hapmaprs121918441
1000 genomesrs121918441
hgdprs121918441
ensemblrs121918441
gopubmedrs121918441
geneviewrs121918441
scholarrs121918441
googlers121918441
pharmgkbrs121918441
gwascentralrs121918441
openSNPrs121918441
23andMers121918441
23andMe allrs121918441
SNP Nexus

SNPshotrs121918441
SNPdbers121918441
MSV3drs121918441
GWAS Ctlgrs121918441
Max Magnitude0
OMIM171060
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918441(A;A)
Alt rs121918441(A;A)
Reference rs121918441(C;C)
Significance Pathogenic
Disease Cholestasis
Variation info
Gene ABCB4
CLNDBN Cholestasis, intrahepatic, of pregnancy 3
Reversed 1
HGVS NC_000007.13:g.87069077G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014687.20,