rs7516843

This is a intron variant variant in the SYT14 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

age at first birth measurement

Mills MC et al. “Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour.” Nature Human Behaviour 5(12):1717-1730 (2021)

Allele A

OR 0.06

p 3.0e-10

N 542,901

Large GWAS

European

About SYT14

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]

View all SYT14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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