rs4820268

This is a synonymous variant in the TMPRSS6 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (18)

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

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 1.0e-22
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters 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 7.0e-19
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in small 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 5.0e-17
N 450,015
Large GWAS
multi-ancestry

triglycerides in medium 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 0.02
p 8.0e-16
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in large 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 0.01
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

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 1.0e-13
N 450,015
Large GWAS
multi-ancestry

erythrocyte volume

Ferreira MA et al. “Sequence variants in three loci influence monocyte counts and erythrocyte volume.” American Journal of Human Genetics 85(5):745-9 (2009)
Allele A
OR 0.13
p 4.0e-12
N 6,015
Large GWAS
European

triglycerides in large 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 7.0e-12
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
10 submitters2 publications

Iron-refractory iron deficiency anemia (IRIDA); Microcytic anemia; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study
Meta-analysisN=159,940Jihye Ryu et al.(2012)· Human Mutation

Transethnic genome-wide meta-analysis in 159,940 individuals identified 60 common genetic variants associated with HbA1c levels. Variants were classified as glycemic (19), erythrocytic (22), or unclassified (19) based on their biological mechanisms. Glycemic variants were associated with higher type 2 diabetes risk (OR=1.05 per allele, p=3×10⁻²⁹), while erythrocytic variants were not. The X-linked G6PD G202A variant showed a large effect in African Americans (0.81% HbA1c reduction per allele) but minimal effects in other ancestries, potentially causing 2% of African American T2D cases to remain undiagnosed when using HbA1c screening.

Traits studied:2-hour glucoseErythrocytic traitsFasting glucoseGlycemic traitsHemoglobin A1c (HbA1c)Type 2 diabetes
PubMedDOIMetascience Observatory

About TMPRSS6

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

View all TMPRSS6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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