rs3743249

This variant is located in the IGF1R gene.

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GWAS Catalog Trait Associations (1)

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

insulin-like growth factor 1 receptor level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.09

p 5.0e-62

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Growth delay due to insulin-like growth factor I resistance; not provided

View on ClinVar →

About IGF1R

This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

View all IGF1R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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