rs976002
This variant is located in the TMPRSS11E gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
total cholesterol measurement
Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)
Allele G
OR 0.03
p 4.0e-46
N 297,824
Large GWAS
multi-ancestry
androstenediol (3alpha, 17alpha) monosulfate (3) measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.18
p 1.0e-31
N 8,192
Large GWAS
European
apolipoprotein A 1 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 A
OR 0.02
p 5.0e-24
N 393,193
Large GWAS
European
choline measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 4.0e-22
N 136,016
Large GWAS
multi-ancestry
saturated fatty acids measurement
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 8.0e-17
N 239,268
Large GWAS
European
free cholesterol measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 4.0e-15
N 136,016
Large GWAS
multi-ancestry
triglycerides in large HDL measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 6.0e-14
N 136,016
Large GWAS
multi-ancestry
triglycerides in very large HDL measurement
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.03
p 6.0e-10
N 88,329
Large GWAS
European
high density lipoprotein cholesterol measurement
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 2.0e-8
N 361,194
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters1 publicationnot provided; Malignant lymphoma, large B-cell, diffuse; Squamous cell carcinoma of the head and neck; Uterine carcinosarcoma
View on ClinVar →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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