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rs12968116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs12968116(C;T)
Make rs12968116(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57655270
GeneATP8B1, LOC100505549
is asnp
is mentioned by
dbSNPrs12968116
dbSNP (classic)rs12968116
ClinGenrs12968116
ebirs12968116
HLIrs12968116
Exacrs12968116
Gnomadrs12968116
Varsomers12968116
LitVarrs12968116
Maprs12968116
PheGenIrs12968116
Biobankrs12968116
1000 genomesrs12968116
hgdprs12968116
ensemblrs12968116
geneviewrs12968116
scholarrs12968116
googlers12968116
pharmgkbrs12968116
gwascentralrs12968116
openSNPrs12968116
23andMers12968116
SNPshotrs12968116
SNPdbers12968116
MSV3drs12968116
GWAS Ctlgrs12968116
GMAF0.05601
Max Magnitude0
? (C;C) (C;T) (T;T) 28


GWAS snp
PMID [PMID 22001757OA-icon.png]
Trait
Title Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Risk Allele C
P-val 9E-10
Odds Ratio 4.8000 None



ClinVar
Risk rs12968116(T;T)
Alt rs12968116(T;T)
Reference Rs12968116(C;C)
Significance Probable-non-pathogenic
Disease not specified Familial Intrahepatic Cholestasis
Variation info
Gene ATP8B1 LOC100505549
CLNDBN not specified Familial Intrahepatic Cholestasis
Reversed 0
HGVS NC_000018.9:g.55322502C>T
CLNSRC
CLNACC RCV000242349.2, RCV000361416.1,