rs3842752

This variant is located in the INS;INS-IGF2;TH gene.

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GWAS Catalog Trait Associations (10)

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

IGF-1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 3.0e-98
N 353,824
Major Consortium StudyLarge GWAS
multi-ancestry

glucose measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 2.0e-18
N 325,386
Major Consortium StudyLarge GWAS
multi-ancestry
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 A
OR 0.02
p 3.0e-11
N 600,867
Major Consortium StudyLarge GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 8.0e-15
N 136,016
Large GWAS
multi-ancestry

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 1.0e-17
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry

urate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 2.0e-16
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 9.0e-14
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 1.0e-12
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

diabetic ketoacidosis

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 0.57
p 5.0e-12
N 572,532
Major Consortium StudyLarge GWAS
multi-ancestry

serum urea amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-10
N 355,637
Major Consortium StudyLarge GWAS
multi-ancestry

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 6.0e-10
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 4.0e-9
N 455,180
Large GWAS
Hispanic or Latin American
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ClinVar annotation

Likely Benign★★★☆
6 submitters4 publications

not specified; Transient Neonatal Diabetes, Dominant/Recessive; Maturity-onset diabetes of the young; Autosomal recessive DOPA responsive dystonia; Maturity-onset diabetes of the young type 10; not provided; Hypoinsulinemia

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
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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