rs12125543

This variant is located in the SOX13 gene.

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GWAS Catalog Trait Associations (1)

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

mosquito bite reaction itch intensity measurement

Jones AV et al. “GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci.” Human Molecular Genetics 26(7):1391-1406 (2017)

Allele G

OR 0.02

p 2.0e-8

N 84,724

Large GWAS

European

About SOX13

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]

View all SOX13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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