rs1059293

This is a intron variant variant in the TMEM50B gene.

Research that mentions this SNP (2)

Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry
AssociationN=4,186Lei Quan et al.(2014)· International Journal of Cancer

Case-control study of 1,514 women (Stage I) replicated in 2,672 women (Stage II) examining 47 SNPs in 26 cytokine and cytokine receptor genes of the adaptive immune response pathway associated with breast cancer risk. The study identified differential associations by ancestry, with five SNPs showing highly significant combined effect in African American women (P-trend=0.0005), where individuals with 3+ protective genotypes had approximately 50% reduced breast cancer risk. Key associated SNPs included rs1041981, rs1800469, rs2243250, and others in immune response genes including IL4, IL4R, IL10RA, TGFB1, and IL13.

Traits studied:Breast cancerER negative breast cancerER positive breast cancer
Genetic polymorphisms in IL10RA and TNF modify the association between blood transfusion and risk of non‐Hodgkin lymphoma
AssociationN=1,023Xiaofeng Bi et al.(2012)· American Journal of Hematology

Population-based case-control study of Connecticut women showing that genetic polymorphisms in IL10RA (rs9610) and TNF (rs1800629) genes modify the association between blood transfusion and non-Hodgkin lymphoma (NHL) risk. IL10RA rs9610 GG genotype carriers with transfusion history had increased NHL risk (OR=1.9, 95% CI: 1.1-3.2), while AG/AA carriers had decreased risk (OR=0.6, 95% CI: 0.4-0.9), with significant gene-transfusion interaction (P=0.003).

Traits studied:B-cell lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone B-cell lymphomaNon-Hodgkin lymphomaSmall lymphocytic lymphoma/chronic lymphocytic leukemiaT-cell lymphoma

About TMEM50B

Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

View all TMEM50B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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