rs476828

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GWAS Catalog Trait Associations (5)

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

type 2 diabetes mellitus

Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele C
OR 1.09
p 5.0e-27
N 433,540
Large GWAS
East Asian
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele C
OR 1.08
p 2.0e-15
N 210,865
Large GWAS
East Asian

obesity

Wheeler E et al. “Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.” Nature Genetics 45(5):513-7 (2013)
Allele C
OR 1.33
p 9.0e-14
N 6,889
Large GWAS
European

cups of coffee per day measurement

Kennedy OJ et al. “Coffee Consumption and Kidney Function: A Mendelian Randomization Study.” American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation 75(5):753-761 (2020)
Allele C
OR —
β 0.043
p 2.0e-10
N 227,666
Large GWAS
European

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele T
OR 0.97
p 1.0e-8
N 1,165,690
Large GWAS
European, NR
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Research that mentions this SNP (1)

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Association Between Common Variants Near the Melanocortin 4 Receptor Gene and Severe Antipsychotic Drug–Induced Weight Gain
AssociationN=344Malhotra AK et al.(2012)· Archives of General Psychiatry

Genome-wide association study of 139 antipsychotic-naïve pediatric patients identified common variants near the MC4R gene (melanocortin 4 receptor) on chromosome 18 associated with severe antipsychotic drug-induced weight gain. The most significant SNPs (rs489693, rs646749, rs12970134) showed p-values ranging from 2.80E-07 to 3.26E-06 in the discovery cohort and replicated in three additional cohorts (n=73, 40, 92). Minor allele homozygotes of rs489693 exhibited significantly greater increases in body fat mass, triglycerides, leptin, insulin, and HOMA-IR.

Traits studied:Antipsychotic-induced weight gainBody mass index (BMI) changeFat massGlucoseHDL cholesterolHOMA-IRInsulinLDL cholesterolLeptinTotal cholesterolTriglycerides
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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