rs6219

This variant is located in the IGF1 gene.

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GWAS Catalog Trait Associations (2)

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 T
OR 0.03
p 2.0e-225
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.02
p 2.0e-16
N 405,540
Large GWAS
European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.02
p 2.0e-19
N 405,979
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Growth delay due to insulin-like growth factor type 1 deficiency; not provided

View on ClinVar →
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Research that mentions this SNP (1)

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Association analysis of the IGF1 gene with childhood growth, IGF-1 concentrations and type 1 diabetes
AssociationN=3,121Vella A. et al.(2008)· Diabetologia

This study examined associations between common genetic variants in the IGF1 gene and type 1 diabetes, childhood growth, and metabolism. Using resequencing and tag SNPs in 3,121 type 1 diabetes family trios and 902 children from the ALSPAC birth cohort, the authors found that IGF1 variants showed no association with type 1 diabetes (χ² p=0.356) and were not significantly associated with birthweight, childhood growth, or insulin secretion. However, IGF1 genetic variation was weakly associated with circulating IGF-1 concentrations at birth (R²=0.063, p=0.029) and marginally at age 7-8 years (R²=0.030, p=0.055).

Traits studied:BirthweightBody heightChildhood growthGlucose metabolismIGF-1 concentrationsInsulin secretionType 1 diabetes
PubMedDOIMetascience 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]

View all IGF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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