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rs121909099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909099(C;C)
Make rs121909099(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57695248
GeneATP8B1
is asnp
is mentioned by
dbSNPrs121909099
ebirs121909099
HLIrs121909099
Exacrs121909099
Varsomers121909099
Maprs121909099
PheGenIrs121909099
hapmaprs121909099
1000 genomesrs121909099
hgdprs121909099
ensemblrs121909099
gopubmedrs121909099
geneviewrs121909099
scholarrs121909099
googlers121909099
pharmgkbrs121909099
gwascentralrs121909099
openSNPrs121909099
23andMers121909099
23andMe allrs121909099
SNP Nexus

SNPshotrs121909099
SNPdbers121909099
MSV3drs121909099
GWAS Ctlgrs121909099
Max Magnitude0
OMIM602397
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909099(C;C)
Alt rs121909099(C;C)
Reference rs121909099(T;T)
Significance Pathogenic
Disease Progressive intrahepatic cholestasis
Variation info
Gene ATP8B1
CLNDBN Progressive intrahepatic cholestasis
Reversed 1
HGVS NC_000018.9:g.55362480A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007686.3,