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rs121909100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909100(C;C)
Make rs121909100(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57669433
GeneATP8B1, LOC100505549
is asnp
is mentioned by
dbSNPrs121909100
ebirs121909100
HLIrs121909100
Exacrs121909100
Varsomers121909100
Maprs121909100
PheGenIrs121909100
hapmaprs121909100
1000 genomesrs121909100
hgdprs121909100
ensemblrs121909100
gopubmedrs121909100
geneviewrs121909100
scholarrs121909100
googlers121909100
pharmgkbrs121909100
gwascentralrs121909100
openSNPrs121909100
23andMers121909100
23andMe allrs121909100
SNP Nexus

SNPshotrs121909100
SNPdbers121909100
MSV3drs121909100
GWAS Ctlgrs121909100
Merged fromRs28939686
Max Magnitude0
OMIM602397
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909100(C;C)
Alt rs121909100(C;C)
Reference rs121909100(T;T)
Significance Pathogenic
Disease Cholestasis Progressive intrahepatic cholestasis
Variation info
Gene ATP8B1 LOC100505549
CLNDBN Cholestasis, benign recurrent intrahepatic 1 Progressive intrahepatic cholestasis
Reversed 1
HGVS NC_000018.9:g.55336665A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007689.3, RCV000007690.3,