rs7930823
This is a regulatory region variant variant in the BET1L gene.
▶Research that mentions this SNP (2)
▶The dominant model analysis of Sirt3 genetic variants is associated with susceptibility to tuberculosis in a Chinese Han populationAssociationN=2,434Tao Wu et al.(2020)· Molecular Genetics and Genomics
A case-control study of 900 TB patients and 1534 controls in a Chinese Han population examined five SIRT3 gene SNPs for association with tuberculosis susceptibility. The rs3782118 minor allele (A) showed decreased TB risk (OR 0.787, p=0.026 under dominant model), and haplotype AGAAG was associated with increased TB risk (OR 1.159, p=0.023). Stratification analysis found the protective effect of rs3782118 was particularly pronounced in females (OR 0.678, p=0.016).
▶BET1L and TNRC6B associate with uterine fibroid risk among European AmericansAssociationN=2,635Todd L. Edwards et al.(2013)· Human Genetics
This association study tested SNPs from a prior Japanese GWAS for association with uterine fibroids in 1,086 European American cases and 1,549 controls from two U.S. cohorts (RFTS and BioVU). Two SNP associations replicated: BET1L rs2280543 (meta-OR=0.67, 95% CI 0.38-0.96, p=6.9×10⁻³) and TNRC6B rs12484776 (meta-OR=1.21, 95% CI 1.07-1.35, p=8.7×10⁻³). When combined with the prior Japanese GWAS, BET1L rs2280543 showed genome-wide significance (meta-OR=0.66, p=3.89×10⁻⁹), suggesting common variants increase uterine fibroid risk in both European American and Japanese populations.
About BET1L
Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]
View all BET1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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