Variant: rs1057516777 

    present in Gene: F11-AS1;F11
    present in Chromosome: 4
    Position on Chromosome: 186286489
    Alleles of this Variant: -/G

rs1057516777 in F11-AS1;F11 gene and Hereditary Factor XI Deficiency PMID 18832909 2008 Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.

PMID 12879434 2003 Compound heterozygosity for two novel mutations in a severe factor XI deficiency.