rs12465214

This variant is located in the LOC102724340 gene.

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GWAS Catalog Trait Associations (1)

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

Syncope

Aegisdottir HM et al. “Genetic variants associated with syncope implicate neural and autonomic processes.” European Heart Journal 44(12):1070-1080 (2023)
Allele C
OR 1.10
p 4.0e-49
N 946,861
Large GWAS
European
Hadji-Turdeghal K et al. “Genome-wide association study identifies locus at chromosome 2q32.1 associated with syncope and collapse.” Cardiovascular Research 116(1):138-148 (2020)
Allele C
OR 1.13
p 6.0e-15
N 408,961
Large GWAS
European
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Research that mentions this SNP (1)

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Three polymorphisms of the eNOS gene and plasma levels of metabolites of nitric oxide in depressed Japanese patients: a preliminary report
AssociationN=375Atsuko Ikenouchi‐Sugita et al.(2011)· Human Psychopharmacology: Clinical and Experimental

This case-control study identified biallelic combinations of genetic variants associated with vasovagal syncope using Bayesian statistical analysis in 175 VVS patients and 200 controls. Eleven pairwise combinations of SNPs from neurohumoral regulation genes and the 2q32.1 locus were identified, with five showing significant epistatic interactions. Key associations included COMT*G with OR=2.04 (p=0.0015) and COMT*G + ADORA2A*C/C with OR=2.78 (p<0.001), suggesting a common genetic background between syncope and cardiovascular pathology.

Traits studied:Reflex syncopeVasovagal syncope
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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