rs3733860
This is a regulatory region variant variant in the SV2C gene.
▶Research that mentions this SNP (1)
▶A Genome‐Wide Association Study for Venous Thromboembolism: The Extended Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) ConsortiumAssociationN=11,615Weihong Tang et al.(2013)· Genetic Epidemiology
A large genome-wide association study of venous thromboembolism (VTE) in 9 European ancestry cohorts (4,849 cases total) identified genome-wide significant associations at F5, ABO, F11, and FGG loci. The FGG locus (rs6536024, RR=0.80, p<5.0×10⁻¹³) and F11 locus (rs4253399, RR=1.24, p<5.0×10⁻¹³) showed novel associations with reduced and increased VTE risk respectively. Additional borderline associations (p<5.0×10⁻⁶) were identified near SUSD1 and OTUD7A, representing new candidate genes for VTE.
About SV2C
Predicted to enable transmembrane transporter activity. Predicted to be involved in several processes, including chemical synaptic transmission; neurotransmitter transport; and regulation of synaptic vesicle exocytosis. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in dopaminergic synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2025]
View all SV2C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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