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rs121918443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918443(C;C)
Make rs121918443(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87443686
GeneABCB4
is asnp
is mentioned by
dbSNPrs121918443
ebirs121918443
HLIrs121918443
Exacrs121918443
Varsomers121918443
Maprs121918443
PheGenIrs121918443
hapmaprs121918443
1000 genomesrs121918443
hgdprs121918443
ensemblrs121918443
gopubmedrs121918443
geneviewrs121918443
scholarrs121918443
googlers121918443
pharmgkbrs121918443
gwascentralrs121918443
openSNPrs121918443
23andMers121918443
23andMe allrs121918443
SNP Nexus

SNPshotrs121918443
SNPdbers121918443
MSV3drs121918443
GWAS Ctlgrs121918443
Max Magnitude0
OMIM171060
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918443(C;C)
Alt rs121918443(C;C)
Reference rs121918443(T;T)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 3
Variation info
Gene ABCB4
CLNDBN Progressive familial intrahepatic cholestasis 3
Reversed 1
HGVS NC_000007.13:g.87073002A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014694.20,