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rs121909103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909103(C;T)
Make rs121909103(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57661282
GeneATP8B1, LOC100505549
is asnp
is mentioned by
dbSNPrs121909103
dbSNP (classic)rs121909103
ClinGenrs121909103
ebirs121909103
HLIrs121909103
Exacrs121909103
Gnomadrs121909103
Varsomers121909103
LitVarrs121909103
Maprs121909103
PheGenIrs121909103
Biobankrs121909103
1000 genomesrs121909103
hgdprs121909103
ensemblrs121909103
geneviewrs121909103
scholarrs121909103
googlers121909103
pharmgkbrs121909103
gwascentralrs121909103
openSNPrs121909103
23andMers121909103
SNPshotrs121909103
SNPdbers121909103
MSV3drs121909103
GWAS Ctlgrs121909103
Max Magnitude0
OMIM602397
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909103(T;T)
Alt rs121909103(T;T)
Reference Rs121909103(C;C)
Significance Pathogenic
Disease Cholestasis of pregnancy
Variation info
Gene ATP8B1 LOC100505549
CLNDBN Cholestasis of pregnancy
Reversed 1
HGVS NC_000018.9:g.55328514G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007695.6,