Variant: rs121964914 

    present in Gene: CFI
    present in Chromosome: 4
    Position on Chromosome: 109741074
    Alleles of this Variant: T/A;C

rs121964914 in CFI gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

PMID 15173250 2004 Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PMID 19846853 2009 Atypical hemolytic-uremic syndrome.

PMID 16621965 2006 Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

PMID 17106690 2007 A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.