rs28602228

This variant is located in the CSF2RA gene.

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GWAS Catalog Trait Associations (1)

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

mitochondrial heteroplasmy measurement

Nandakumar P et al. “Nuclear genome-wide associations with mitochondrial heteroplasmy.” Science Advances 7(12) (2021)

Allele T

OR 0.01

p 8.0e-16

N 982,072

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About CSF2RA

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

View all CSF2RA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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