rs2413450
This variant is located in the TMPRSS6 gene.
▶GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
erythrocyte volume
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele T
OR 0.01
p 3.0e-41
N 24,167
Major Consortium StudyLarge GWAS
European
van Rooij FJA et al. “Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.” American Journal of Human Genetics 100(1):51-63 (2017)
Allele T
OR 0.00
p 4.0e-11
N 51,170
Meta-analysisLarge GWAS
multi-ancestry
mean corpuscular hemoglobin
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele T
OR 0.01
p 9.0e-34
N 24,167
Major Consortium StudyLarge GWAS
European
mean corpuscular hemoglobin concentration
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.13
p 5.0e-16
N 8,181
Large GWAS
South Asian
van Rooij FJA et al. “Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.” American Journal of Human Genetics 100(1):51-63 (2017)
Allele T
OR 0.00
p 2.0e-10
N 39,703
Meta-analysisLarge GWAS
multi-ancestry
triglycerides 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 C
OR 0.01
p 5.0e-14
N 450,015
Large GWAS
multi-ancestry
hematocrit
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele T
OR 0.17
p 2.0e-13
N 24,167
Major Consortium StudyLarge GWAS
European
free cholesterol to total lipids in large 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 C
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry
total lipids in large HDL
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry
cholesterol 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 C
OR 0.01
p 3.0e-12
N 450,015
Large GWAS
multi-ancestry
triglycerides to total lipids in large 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 C
OR 0.01
p 3.0e-11
N 450,015
Large GWAS
multi-ancestry
free cholesterol to total lipids in small VLDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.01
p 4.0e-11
N 450,015
Large GWAS
multi-ancestry
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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