rs1962223

This is a upstream gene variant variant in the SYN3 gene.

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Research that mentions this SNP (1)

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Polymorphisms in tissue inhibitors of metalloproteinases‐2 and ‐3 and breast cancer susceptibility and survival
AssociationN=2,131Neeraja B. Peterson et al.(2009)· International Journal of Cancer

Population-based case-control study in Chinese women examining TIMP-2 and TIMP-3 polymorphisms with breast cancer susceptibility and survival. TIMP-2 rs7501477 TT genotype increased breast cancer risk (OR 2.9, 95% CI 1.2-7.0). TIMP-3 rs8136803 TT genotype significantly increased breast cancer risk (OR 5.1, 95% CI 1.1-24.3) and worsened disease-free survival (HR 3.9, 95% CI 1.4-10.6), while rs9609643 AA genotype showed protective effect (OR 0.4, 95% CI 0.2-1.0).

Traits studied:breast cancer survivalbreast cancer susceptibilitydisease-free survivaloverall survival
PubMedDOIMetascience Observatory

About SYN3

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]

View all SYN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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