rs3822072

This is a intron variant variant in the FAM13A gene.

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GWAS Catalog Trait Associations (15)

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

cholesterol to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-24
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 8.0e-21
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in medium HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 9.0e-20
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in medium LDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 1.0e-16
N 450,015
Large GWAS
multi-ancestry

type 2 diabetes mellitus

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 G
OR 0.06
p 3.0e-14
N 421,743
Large GWAS
multi-ancestry

triglyceride measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele G
OR 0.02
p 5.0e-14
N 441,016
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele G
OR 0.02
p 8.0e-11
N 361,194
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.025
p 2.0e-9
N 94,674
Large GWAS
multi-ancestry

free cholesterol to total lipids in small HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-12
N 241,027
Large GWAS
European

gluteofemoral adipose tissue measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)
Allele G
OR 0.05
p 5.0e-12
N 37,641
Large GWAS
European, East Asian, South Asian, African unspecified, NR

triglycerides in HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 5.0e-12
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

About FAM13A

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Implicated in chronic obstructive pulmonary disease. [provided by Alliance of Genome Resources, Jul 2025]

View all FAM13A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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