rs246814
This is a intron variant variant in the SV2C gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Parkinson disease
Foo JN et al. “Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.” Jama Neurology 77(6):746-754 (2020)
Allele C
OR 1.11
p 6.0e-10
N 31,575
Large GWAS
multi-ancestry
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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