Variant: rs144812066 

    present in Gene: CYP21A2;CFB
    present in Chromosome: 6
    Position on Chromosome: 31947807
    Alleles of this Variant: A/C;G

rs144812066 in CYP21A2;CFB gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 PMID 17182750 2007 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

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