rs3923113

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GWAS Catalog Trait Associations (5)

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

isoleucine measurement

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)

Allele A

OR 0.03

p 5.0e-14

N 117,944

Large GWAS

European

type 2 diabetes mellitus

Zhao W et al. “Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.” Nature Genetics 49(10):1450-1457 (2017)

Allele C

OR 0.07

p 1.0e-13

N 183,651

Large GWAS

multi-ancestry

Morris AP et al. “Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes” Nature Genetics (2012)

Allele C

OR 1.11

p 2.0e-9

N 69,033

Large GWAS

multi-ancestry

Kooner JS et al. “Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.” Nature Genetics 43(10):984-9 (2011)

Allele C

OR 1.09

p 1.0e-8

N 20,019

Large GWAS

South Asian

polyunsaturated fatty acids to monounsaturated fatty acids ratio

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele C

OR —

p 6.0e-12

N 110,346

Large GWAS

European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele C

OR —

p 1.0e-10

N 110,346

Large GWAS

European

depressive symptom measurement, non-high density lipoprotein cholesterol measurement

Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)

Allele A

OR 0.01

p 5.0e-8

N 89,939

Large GWAS

European

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Research that mentions this SNP (1)

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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

AssociationN=76,071Albrechtsen A. et al.(2013)· Diabetologia

Three-stage exome sequencing and replication study identified three amino-acid polymorphisms associated with metabolic traits: CD300LG R82C associated with fasting HDL-cholesterol (p=7.2×10⁻⁸), and COBLL1 N939D (rs7607980, p=1.2×10⁻¹¹) and MACF1 M2290V (rs2296172, p=8.2×10⁻¹⁰) both associated with type 2 diabetes. The study involved exome sequencing of 1,974 Danish individuals with replication in 15,989 Danes and 63,896 Europeans.

Traits studied:BMIFasting glucoseHDL-cholesterolHypertensionObesityTriacylglycerolType 2 diabetesWaist circumference

PubMed DOI Metascience Observatory

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

rs3923113

GWAS Catalog Trait Associations (5)

isoleucine measurement

type 2 diabetes mellitus

polyunsaturated fatty acids to monounsaturated fatty acids ratio

fatty acid amount

depressive symptom measurement, non-high density lipoprotein cholesterol measurement

Research that mentions this SNP (1)

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