rs34638591

This is a intron variant variant in the TMPRSS11E gene.

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GWAS Catalog Trait Associations (3)

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

level of creatine kinase U-type, mitochondrial in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.06

p 3.0e-24

N 47,745

Large GWAS

European

degree of unsaturation measurement

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 0.02

p 5.0e-18

N 450,015

Large GWAS

multi-ancestry

nicotine metabolite ratio

Buchwald J et al. “Genome-wide association meta-analysis of nicotine metabolism and cigarette consumption measures in smokers of European descent.” Molecular Psychiatry 26(6):2212-2223 (2021)

Allele T

OR 0.17

p 1.0e-12

N 5,185

Meta-analysis

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]