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rs121909104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909104(C;T)
Make rs121909104(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57688361
GeneATP8B1
is asnp
is mentioned by
dbSNPrs121909104
ebirs121909104
HLIrs121909104
Exacrs121909104
Varsomers121909104
Maprs121909104
PheGenIrs121909104
hapmaprs121909104
1000 genomesrs121909104
hgdprs121909104
ensemblrs121909104
gopubmedrs121909104
geneviewrs121909104
scholarrs121909104
googlers121909104
pharmgkbrs121909104
gwascentralrs121909104
openSNPrs121909104
23andMers121909104
23andMe allrs121909104
SNP Nexus

SNPshotrs121909104
SNPdbers121909104
MSV3drs121909104
GWAS Ctlgrs121909104
Max Magnitude0
OMIM602397
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909104(T;T)
Alt rs121909104(T;T)
Reference rs121909104(C;C)
Significance Pathogenic
Disease Progressive intrahepatic cholestasis
Variation info
Gene ATP8B1
CLNDBN Progressive intrahepatic cholestasis
Reversed 1
HGVS NC_000018.9:g.55355593G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007696.3,