rs12968116

This is a variant in the ATP8B1 gene that changes a arginine to an glutamine.

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GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum alanine aminotransferase amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 3.0e-32
N 406,784
Major Consortium StudyLarge GWAS
European

hematocrit

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.02
p 9.0e-16
N 562,259
Large GWAS
European

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.02
p 1.0e-15
N 545,203
Large GWAS
European

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.024
p 4.0e-14
N 684,122
Large GWAS
European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.02
p 2.0e-13
N 1,320,016
Large GWAS
European

serum gamma-glutamyl transferase measurement

Chambers JC et al. “Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.” Nature Genetics 43(11):1131-8 (2011)
Allele C
OR 4.80
p 9.0e-10
N 61,089
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.01
p 5.0e-9
N 1,320,016
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
10 submitters2 publications

Progressive familial intrahepatic cholestasis type 1; not specified

View on ClinVar →

About ATP8B1

This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]

View all ATP8B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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