Variant: rs1057516695

present in Gene: F11 present in Chromosome: 4 Position on Chromosome: 186275785 Alleles of this Variant: A/G

rs1057516695 in F11 gene and Hereditary Factor XI Deficiency PMID 12716376 2003 Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography.

PMID 16835901 2006 Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

PMID 16607084 2006 Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.