rs12876143

This is a regulatory region variant variant in the ATP11A gene.

GWAS Catalog Trait Associations (3)

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

Red cell distribution width

Allele C
OR 0.07
p 1.0e-87
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.07
p 5.0e-81
N 408,112
Large GWAS
European

reticulocyte amount

Allele C
OR 0.03
p 2.0e-17
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 4.0e-17
N 408,112
Large GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 2.0e-12
N 408,112
Large GWAS
European
Allele C
OR 0.02
p 2.0e-12
N 394,642
Large GWAS
European

About ATP11A

The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]

View all ATP11A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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