rs3842763

This variant is located in the INS-IGF2 gene.

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GWAS Catalog Trait Associations (7)

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

serum creatinine amount

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 2.0e-32
N 450,015
Large GWAS
multi-ancestry

urate measurement

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.03
p 5.0e-29
N 630,117
Large GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.02
p 1.0e-19
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry

serum urea amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 2.0e-23
N 394,642
Large GWAS
European

body weight

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 1.0e-15
N 609,187
Major Consortium StudyLarge GWAS
multi-ancestry

blood urea nitrogen amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-15
N 492,819
Large GWAS
multi-ancestry

insulin-like growth factor-binding protein 2 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 3.0e-13
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Single‐nucleotide polymorphisms in the p53 pathway genes modify cancer risk in BRCA1 and BRCA2 carriers of Jewish‐Ashkenazi descent
AssociationN=704Ronit I. Yarden et al.(2010)· Molecular Carcinogenesis

This case-cohort study of 704 postmenopausal women examined 33 SNPs in IGF-I, insulin resistance, and related signaling pathway genes. Six SNPs in INS, IGF-I, and IGFBP3 genes and 11 SNPs in IRS1 and AKT1/2 genes were associated with colorectal cancer risk, with associations differing by obesity status, physical activity, and exogenous estrogen use. Approximately 30-50% of the SNP-cancer association was mediated or influenced by IGF-I/IR traits, suggesting gene-lifestyle interactions affect postmenopausal CRC risk.

Traits studied:Colorectal cancerFasting glucoseFasting insulinHOMA-IRIGFBP3 levelsInsulin resistanceInsulin-like growth factor-I levels
PubMedDOIMetascience Observatory

About INS-IGF2

This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]

View all INS-IGF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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