rs4966011

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.

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 2.0e-23
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

urate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 2.0e-10
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry

attention deficit hyperactivity disorder

van der Laan CM et al. “Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes.” Nature Genetics 57(10):2427-2435 (2025)
Allele A
OR 0.02
p 4.0e-8
N 299,017
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Genes in the insulin and insulin-like growth factor pathway and odds of metachronous colorectal neoplasia
AssociationN=1,439Elizabeth C. LeRoy et al.(2011)· Human Genetics

This study analyzed 521 SNPs in 18 insulin and IGF pathway genes among 1,439 subjects from two chemoprevention trials to identify genetic interactions associated with metachronous colorectal neoplasia. Classification and regression tree (CART) analysis identified gene-by-gene interactions: carriers of the A allele at rs7166348 (IGF1R) with AA genotype at rs1823023 (PIK3R1) had the highest probability of adenoma (71.8%, OR 3.7; 95%CI 2.2-6.5), while those with A at rs7166348, G at rs1823023, and AA at rs10426094 (INSR) had the lowest risk (14.3%, OR 0.22; 95%CI 0.07-0.66). Multifactor dimensionality reduction identified a three-way interaction (rs7166348, rs12609995, rs2715425) with OR 2.12 (95%CI 1.70-2.65) for metachronous neoplasia.

Traits studied:Colorectal adenomaColorectal cancerMetachronous colorectal neoplasia
PubMedDOIMetascience Observatory

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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