rs7172615

This is a regulatory region variant variant in the ATP8B4 gene.

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GWAS Catalog Trait Associations (2)

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

basophil count

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 —

p 1.0e-20

N 577,663

Large GWAS

multi-ancestry

level of C-type lectin domain family 11 member A in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.05

p 7.0e-13

N 47,745

Large GWAS

European

About ATP8B4

This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

View all ATP8B4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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