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rs111033609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033609(G;T)
Make rs111033609(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57695188
GeneATP8B1
is asnp
is mentioned by
dbSNPrs111033609
ebirs111033609
HLIrs111033609
Exacrs111033609
Varsomers111033609
Maprs111033609
PheGenIrs111033609
hapmaprs111033609
1000 genomesrs111033609
hgdprs111033609
ensemblrs111033609
gopubmedrs111033609
geneviewrs111033609
scholarrs111033609
googlers111033609
pharmgkbrs111033609
gwascentralrs111033609
openSNPrs111033609
23andMers111033609
23andMe allrs111033609
SNP Nexus

SNPshotrs111033609
SNPdbers111033609
MSV3drs111033609
GWAS Ctlgrs111033609
Merged fromRs121909097, Rs28939685
Max Magnitude0
OMIM602397
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111033609(T;T)
Alt rs111033609(T;T)
Reference rs111033609(G;G)
Significance Pathogenic
Disease Progressive intrahepatic cholestasis
Variation info
Gene ATP8B1
CLNDBN Progressive intrahepatic cholestasis
Reversed 1
HGVS NC_000018.9:g.55362420C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007684.4,