rs8097764

This variant is located in the ATP8B1 gene.

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GWAS Catalog Trait Associations (5)

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

hemoglobin measurement

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 A
OR 0.02
p 5.0e-15
N 563,946
Large GWAS
European

erythrocyte count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 4.0e-10
N 503,987
Large GWAS
multi-ancestry

cancer

Lindström S et al. “Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions.” Journal of the National Cancer Institute 115(6):712-732 (2023)
Allele A
OR —
p 1.0e-8
N 909,623
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
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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