rs12914977

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 T

OR 0.01

p 7.0e-23

N 3,382,012

Large GWAS

European, East Asian, Hispanic or Latin American, African unspecified

social inhibition quality, attention deficit hyperactivity disorder, substance abuse

Karlsson Linnér R et al. “Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.” Nature Neuroscience 24(10):1367-1376 (2021)

Allele C

OR 0.01

p 4.0e-14

N 2,776,348

Large GWAS

European

risk-taking behaviour

Karlsson Linnér R et al. “Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.” Nature Genetics 51(2):245-257 (2019)

Allele T

OR 0.02

p 2.0e-9

N 315,894

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]

rs12914977

GWAS Catalog Trait Associations (3)

smoking initiation

social inhibition quality, attention deficit hyperactivity disorder, substance abuse

risk-taking behaviour

About IGF1R

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