rs1318937

This is a downstream gene variant variant in the SH3BP5 gene.

Research that mentions this SNP (1)

Genome‐wide search for replicable risk gene regions in alcohol and nicotine co‐dependence
AssociationN=3,143Lingjun Zuo et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

A genome-wide association study of 3,143 subjects (818 European-American cases, 1,396 EA controls, 449 African-American cases, 480 AA controls) identified a unique genome-wide significant replicable risk region SH3BP5-NR2C2 on chromosome 3 enriched with 11 replicable SNPs for alcohol and nicotine co-dependence, with effect sizes showing odds ratios ranging from 0.69–1.38 across the region and p-values from 4.1×10⁻⁷ to 4.1×10⁻³. The region was consistently associated across both populations with meta-analysis p<0.0001, and functional studies showed multiple SNPs had cis- and trans-acting regulatory effects on gene expression.

Traits studied:Alcohol and nicotine co-dependenceAlcohol dependenceNicotine dependence

About SH3BP5

Enables guanyl-nucleotide exchange factor activity and protein kinase inhibitor activity. Acts upstream of or within intracellular signal transduction. Located in cytoplasmic vesicle membrane and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

View all SH3BP5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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