rs78132896
This is a upstream gene variant variant in the EPHA7 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
response to anticoagulant
▶Research that mentions this SNP (1)
▶Association of Genetic Variants With Warfarin-Associated Bleeding Among Patients of African DescentAssociationN=403Tanima De et al.(2018)· JAMA
This genome-wide association study identified four SNPs on chromosome 6 (rs78132896, rs16871327, rs115112393, rs114504854) in the EPHA7 gene that are associated with warfarin-associated major bleeding in African Americans. Meta-analysis of discovery (31 cases, 184 controls) and replication (40 cases, 148 controls) cohorts showed genome-wide significant association (OR 8.27, 95% CI 4.18–16.38, P = 2.05 × 10⁻¹¹). These SNPs are found only in African descent populations.
About EPHA7
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
View all EPHA7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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