rs459193

This is a downstream gene variant variant in the C5orf67 gene.

▶

GWAS Catalog Trait Associations (42)

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

BMI-adjusted waist-hip ratio

Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)

Allele A

OR 0.03

p 3.0e-49

N 660,648

Large GWAS

European

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)

Allele A

OR —

β 0.023

p 6.0e-10

N 252,375

Large GWAS

European

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)

Allele A

OR 0.03

p 4.0e-10

N 149,672

Meta-analysisLarge GWAS

multi-ancestry

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)

Allele A

OR 0.03

p 5.0e-9

N 143,480

Large GWAS

multi-ancestry

diabetes mellitus

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 0.07

p 2.0e-37

N 611,168

Major Consortium StudyLarge GWAS

multi-ancestry

type 2 diabetes mellitus

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 0.07

p 5.0e-37

N 612,947

Major Consortium StudyLarge GWAS

multi-ancestry

Xue A et al. “Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.” Nature Communications 9(1):2941 (2018)

Allele A

OR 0.07

p 9.0e-18

N 659,316

Large GWAS

multi-ancestry

Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)

Allele A

OR 0.10

p 6.0e-30

N 421,743

Large GWAS

multi-ancestry

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 A

OR 1.07

p 2.0e-17

N 210,865

Large GWAS

East Asian

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 A

OR 0.08

p 1.0e-11

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 A

OR 1.08

p 6.0e-9

N 69,033

Large GWAS

multi-ancestry

Imamura M et al. “Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.” Nature Communications 7:10531 (2016)

Allele A

OR 1.11

p 1.0e-10

N 41,646

Large GWAS

multi-ancestry

serum albumin amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.02

p 1.0e-36

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.02

p 3.0e-16

N 435,807

Large GWAS

multi-ancestry

high density lipoprotein cholesterol measurement

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 0.04

p 3.0e-32

N 578,125

Major Consortium StudyLarge GWAS

multi-ancestry

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)

Allele A

OR 0.03

p 2.0e-23

N 297,626

Major Consortium StudyLarge GWAS

multi-ancestry

triglyceride measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)

Allele A

OR 0.03

p 9.0e-29

N 297,626

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 0.03

p 6.0e-24

N 558,939

Major Consortium StudyLarge GWAS

multi-ancestry

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele A

OR 0.03

p 3.0e-12

N 99,432

Large GWAS

African American or Afro-Caribbean, African unspecified

polyunsaturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.02

p 1.0e-27

N 450,015

Large GWAS

multi-ancestry

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 G

OR —

p 9.0e-10

N 110,346

Large GWAS

European

waist-hip ratio, high density lipoprotein cholesterol measurement

Huang LO et al. “Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.” Nature Metabolism 3(2):228-243 (2021)

Allele A

OR —

p 4.0e-25

N 413,810

Large GWAS

multi-ancestry

diabetic retinopathy

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 0.09

p 7.0e-25

N 611,288

Major Consortium StudyLarge GWAS

multi-ancestry

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 A

OR 0.02

p 4.0e-22

N 454,183

Meta-analysisLarge GWAS

European

▶

Research that mentions this SNP (1)

▶

Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium

AssociationN=26,760Stephanie A. Bien et al.(2017)· Diabetologia

Transethnic fine-mapping study of glycaemic traits in 26,760 participants (Hispanic/Latino, African, Asian, and Native American) using the Metabochip. Replicated 31/39 fasting glucose and 14/17 fasting insulin loci from European GWAS. Identified two novel secondary signals at G6PC2-rs477224 and GCK-rs2908290, a population-specific signal at G6PC2-rs77719485 in African ancestry, and one novel locus at SLC17A2-rs75862513 for fasting insulin.

Traits studied:Fasting glucoseFasting insulinType 2 diabetes

PubMed DOI Metascience Observatory

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

rs459193

GWAS Catalog Trait Associations (42)

BMI-adjusted waist-hip ratio

diabetes mellitus

type 2 diabetes mellitus

serum albumin amount

high density lipoprotein cholesterol measurement

triglyceride measurement

polyunsaturated fatty acids to total fatty acids percentage

waist-hip ratio, high density lipoprotein cholesterol measurement

diabetic retinopathy

urate measurement

Research that mentions this SNP (1)

Community Wiki

Comments