rs151053941

This is a protein-altering variant in the NKX2-3 gene.

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GWAS Catalog Trait Associations (1)

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

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.13

p 3.0e-23

N 408,112

Large GWAS

European

About NKX2-3

This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]

View all NKX2-3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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