rs2059807

This is a intron variant variant in the INSR gene.

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GWAS Catalog Trait Associations (2)

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

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele A

OR 0.02

p 1.0e-9

N 186,825

Major Consortium StudyLarge GWAS

European

polycystic ovary syndrome

Shi Y et al. “Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.” Nature Genetics 44(9):1020-5 (2012)

Allele G

OR 1.14

p 1.0e-8

N 5,255

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About INSR

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]