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rs121909105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909105(C;T)
Make rs121909105(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57674849
GeneATP8B1
is asnp
is mentioned by
dbSNPrs121909105
ebirs121909105
HLIrs121909105
Exacrs121909105
Varsomers121909105
Maprs121909105
PheGenIrs121909105
hapmaprs121909105
1000 genomesrs121909105
hgdprs121909105
ensemblrs121909105
gopubmedrs121909105
geneviewrs121909105
scholarrs121909105
googlers121909105
pharmgkbrs121909105
gwascentralrs121909105
openSNPrs121909105
23andMers121909105
23andMe allrs121909105
SNP Nexus

SNPshotrs121909105
SNPdbers121909105
MSV3drs121909105
GWAS Ctlgrs121909105
Max Magnitude0
OMIM602397
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909105(T;T)
Alt rs121909105(T;T)
Reference rs121909105(C;C)
Significance Pathogenic
Disease Progressive intrahepatic cholestasis
Variation info
Gene ATP8B1
CLNDBN Progressive intrahepatic cholestasis
Reversed 1
HGVS NC_000018.9:g.55342081G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007697.3,