rs10465885

This is a regulatory region variant variant in the GJA5 gene.

GWAS Catalog Trait Associations (1)

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

atrial fibrillation

Allele C
OR 1.04
p 1.0e-10
N 1,030,836
Large GWAS
European

Research that mentions this SNP (2)

The research of ion channel‐related gene polymorphisms with atrial fibrillation in the Chinese Han population
AssociationN=381Xiumin Liu et al.(2019)· Molecular Genetics &amp; Genomic Medicine

This case-control study of 381 Chinese Han patients (185 with atrial fibrillation, 196 controls) investigated associations between ion channel-related gene polymorphisms and AF risk. Three SNPs were significantly associated with AF: rs8134775 near KCNE2 conferred decreased AF risk (OR = 0.70; p = 0.034), rs35594137 in GJA5 conferred decreased AF risk in the recessive model (OR = 0.40; p = 0.018), and rs8079702 near KCNJ2 conferred increased AF risk in the recessive model (OR = 2.31; p = 0.012).

Traits studied:Atrial fibrillation
Genome‐wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility
AssociationN=1,604Antonio Julià et al.(2008)· Arthritis &amp; Rheumatism

A two-stage genome-wide association study (GWAS) in Spanish population identified KLF12 as a new susceptibility locus for rheumatoid arthritis, with rs1324913 showing stronger association (P=0.01) in replication than PTPN22 rs2476601. Joint analysis with three previous GWAS studies confirmed KLF12 and PTPRT as commonly associated loci, with KLF12 SNP rs1887346 and rs9318228 showing P values of 6.03×10⁻⁵ and 3.66×10⁻⁵ in the discovery phase and evidence of replication across multiple populations.

Traits studied:Chronic inflammatory arthritisConnective tissue disordersCrohn's diseasePsoriatic arthritisRheumatoid arthritisSpondylarthritisSystemic lupus erythematosusType 1 diabetes mellitusVitiligo

About GJA5

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

View all GJA5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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