rs562875701

This is a protein-altering variant in the ATP8B2 gene.

GWAS Catalog Trait Associations (1)

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

interleukin-6 receptor subunit alpha measurement

Allele A
OR 0.32
p 8.0e-37
N 47,745
Large GWAS
European

About ATP8B2

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all ATP8B2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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