rs4694077
This is a intron variant variant in the TMPRSS11E gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phospholipids in small 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 T
OR 0.05
p 1.0e-41
N 203,300
Large GWAS
European
total lipids in small 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 T
OR 0.04
p 1.0e-34
N 203,300
Large GWAS
European
alkaline phosphatase measurement
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele C
OR 10.40
p 2.0e-25
N 390,964
Large GWAS
multi-ancestry
triglycerides in small 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 T
OR 0.03
p 2.0e-24
N 203,300
Large GWAS
European
monounsaturated fatty acids; 16:1, 18:1 measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 7.0e-24
N 203,300
Large GWAS
European
triglyceride measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.03
p 6.0e-15
N 203,300
Large GWAS
European
phospholipids in medium HDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 6.0e-11
N 136,016
Large GWAS
multi-ancestry
gout
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 1.04
p 6.0e-10
N 1,011,521
Large GWAS
European
About TMPRSS11E
Predicted to enable serine-type peptidase activity. Involved in cognition. Predicted to be located in extracellular region and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all TMPRSS11E variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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