rs2911727

This variant is located in the TMX2 gene.

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GWAS Catalog Trait Associations (1)

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

health study participation

Tyrrell J et al. “Genetic predictors of participation in optional components of UK Biobank.” Nature Communications 12(1):886 (2021)

Allele T

OR 1.01

p 5.0e-10

N 451,097

Major Consortium StudyLarge GWAS

European

About TMX2

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]

View all TMX2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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