rs3842748

This variant is located in the INS gene.

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GWAS Catalog Trait Associations (1)

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

urate measurement

Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)

Allele C

OR 0.02

p 1.0e-17

N 454,183

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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Research that mentions this SNP (1)

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Common polymorphic variation in the genetically diverse African insulin gene and its association with size at birth

AssociationN=2,650Clive J. Petry et al.(2009)· Human Genetics

A candidate gene association study of 2,613 Gambian individuals examined six SNPs flanking the insulin gene (INS) VNTR in relation to birth size and early growth. Maternal transmission of the rs689 allele was associated with increased birth length (effect size 17.5 mm; P = 0.004), and the African-specific rs5506 allele with greater post-natal weight gain (effect size 0.19 z-score points/year; P = 0.005). These findings suggest polymorphic variation in the INS region contributes to fetal and early growth characteristics in this African population.

Traits studied:Birth lengthBirth weightHead circumference at birthLow birth weightPost-natal weight gainSize at birth

PubMed DOI Metascience Observatory

About INS

This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]