rs144988916
This is a intron variant variant in the SYT2 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.
vaginal microbiome measurement
Fan W et al. “Association between Human Genetic Variants and the Vaginal Bacteriome of Pregnant Women.” Msystems 6(4):e0015821 (2021)
Allele A
OR 1.32
p 4.0e-9
N 315
Small GWAS
East Asian
About SYT2
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
View all SYT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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