rs72771940
This is a intergenic variant variant in the SV2C gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
platelet volume
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.17
p 4.0e-15
N 394,642
Large GWAS
European
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 0.74
p 2.0e-8
N 294,787
Major Consortium StudyLarge GWAS
European
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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