rs6703865
This is a intron variant variant in the F5 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.
hippocampal atrophy
▶Research that mentions this SNP (1)
▶Multiple loci influencing hippocampal degeneration identified by genome scanAssociationN=2,592Scott A. Melville et al.(2012)· Annals of Neurology
A two-stage genome-wide association study identified loci influencing hippocampal volume (HV), total cerebral volume (TCV), and white matter hyperintensities (WMH) in Alzheimer disease-related endophenotypes. Novel genome-wide significant associations (p<5.0×10⁻⁸) were found for HV with SNPs in APOE (p=5.23×10⁻³¹), F5/SELP (p=5.53×10⁻⁹), LHFP, and GCFC2 gene regions in Caucasian discovery cohorts, with replication support in African Americans. Significant associations with different SNPs in the same gene were observed for PICALM (p<1×10⁻⁵ in Caucasians) with HV, SYNPR with TCV, and TTC27 with WMH.
About F5
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
View all F5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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