rs2871974

This is a intron variant variant in the IGF1R gene.

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GWAS Catalog Trait Associations (3)

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

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.04
p 6.0e-27
N 2,584,013
Large GWAS
multi-ancestry

TPE interval measurement

Ramírez J et al. “Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.” American Journal of Human Genetics 106(6):764-778 (2020)
Allele C
OR 0.04
p 3.0e-15
N 71,338
Large GWAS
European

hemoglobin measurement

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.01
p 3.0e-10
N 408,112
Large GWAS
European

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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