rs6218

This is a 3 prime utr variant variant in the IGF1 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele G

OR 0.06

p 5.0e-172

N 5,314,291

Large GWAS

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

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ClinVar annotation

Benign★☆☆☆

2 submitters

Growth delay due to insulin-like growth factor type 1 deficiency (IGF1D)

View on ClinVar →

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Research that mentions this SNP (1)

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IGF1, IGFBP1, and IGFBP3 genes and mammographic density: The Multiethnic Cohort

AssociationN=819Martijn Verheus et al.(2010)· International Journal of Cancer

This study investigated the association between common genetic variation in IGF1, IGFBP1, and IGFBP3 genes and mammographic density in 819 women from the Multiethnic Cohort. Only weak evidence was found for associations: rs35767 (IGF1, p=0.03) was associated with 3.2% lower mammographic density, rs35539615 (IGFBP1, p=0.05) with higher density, and rs2453839 (IGFBP3, p=0.01) with lower density. Ethnicity significantly modified the associations for IGFBP3 variants.

Traits studied:Mammographic density

PubMed DOI Metascience Observatory

About IGF1

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]