rs7402982

This is a regulatory region 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.

serum gamma-glutamyl transferase measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 5.0e-13
N 928,679
Large GWAS
multi-ancestry
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele A
OR 0.00
p 1.0e-10
N 875,069
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 9.0e-9
N 477,575
Large GWAS
multi-ancestry

polyunsaturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 6.0e-11
N 450,015
Large GWAS
multi-ancestry

birth weight

Horikoshi M et al. “Genome-wide associations for birth weight and correlations with adult disease.” Nature 538(7624):248-252 (2016)
Allele A
OR 0.02
p 1.0e-9
N 142,558
Large GWAS
multi-ancestry

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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