rs12403994

This is a upstream gene variant variant in the PROX1 gene.

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GWAS Catalog Trait Associations (1)

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

type 2 diabetes mellitus

Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)

Allele C

OR 1.05

p 6.0e-12

N 433,540

Large GWAS

East Asian

About PROX1

The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

View all PROX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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