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rs121918442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918442(C;T)
Make rs121918442(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87406293
GeneABCB4
is asnp
is mentioned by
dbSNPrs121918442
dbSNP (classic)rs121918442
ClinGenrs121918442
ebirs121918442
HLIrs121918442
Exacrs121918442
Gnomadrs121918442
Varsomers121918442
LitVarrs121918442
Maprs121918442
PheGenIrs121918442
Biobankrs121918442
1000 genomesrs121918442
hgdprs121918442
ensemblrs121918442
geneviewrs121918442
scholarrs121918442
googlers121918442
pharmgkbrs121918442
gwascentralrs121918442
openSNPrs121918442
23andMers121918442
SNPshotrs121918442
SNPdbers121918442
MSV3drs121918442
GWAS Ctlgrs121918442
Max Magnitude0
OMIM171060
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918442(T;T)
Alt rs121918442(T;T)
Reference Rs121918442(C;C)
Significance Pathogenic
Disease Cholecystitis not specified
Variation info
Gene ABCB4
CLNDBN Cholecystitis not specified
Reversed 1
HGVS NC_000007.13:g.87035609G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014691.20, RCV000267429.1,