rs2072115

This variant is located in the RAPGEF3 gene.

Research that mentions this SNP (1)

An association between Epac‐1 gene variants and anxiety and depression in two independent samples
AssociationN=1,594Christel M. Middeldorp et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This association study examined the relationship between three intronic SNPs in the RAPGEF3 (Epac-1) gene and anxiety and depression phenotypes in two independent samples. In the Dutch sample (n=910), rs2072115 showed a significant dominant effect for anxiety and depression, with the G-C-C haplotype associated with lower anxiety and neuroticism scores. In the USA replication sample (n=684), rs2074533 showed a significant additive effect on a genetic factor score, with haplotypes G-C-C and A-C-T showing opposite directional effects. Both samples showed associations between Epac-1 variants and anxiety/depression but with different SNPs or opposite effect directions, likely due to differences in linkage disequilibrium between populations.

Traits studied:AnxietyDepressionNeuroticism

About RAPGEF3

Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including Rap protein signal transduction; cellular response to cAMP; and regulation of syncytium formation by plasma membrane fusion. Located in several cellular components, including filopodium; lamellipodium; and microvillus. Implicated in nicotine dependence. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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