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rs121918440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918440(C;T)
Make rs121918440(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87411948
GeneABCB4
is asnp
is mentioned by
dbSNPrs121918440
ebirs121918440
HLIrs121918440
Exacrs121918440
Varsomers121918440
Maprs121918440
PheGenIrs121918440
hapmaprs121918440
1000 genomesrs121918440
hgdprs121918440
ensemblrs121918440
gopubmedrs121918440
geneviewrs121918440
scholarrs121918440
googlers121918440
pharmgkbrs121918440
gwascentralrs121918440
openSNPrs121918440
23andMers121918440
23andMe allrs121918440
SNP Nexus

SNPshotrs121918440
SNPdbers121918440
MSV3drs121918440
GWAS Ctlgrs121918440
Max Magnitude0
OMIM171060
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918440(T;T)
Alt rs121918440(T;T)
Reference rs121918440(C;C)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 3 Cholestasis
Variation info
Gene ABCB4
CLNDBN Progressive familial intrahepatic cholestasis 3 Cholestasis, intrahepatic, of pregnancy 3
Reversed 1
HGVS NC_000007.13:g.87041264G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014683.26, RCV000033063.25,