Variant: rs1449441916 

    present in Gene: C3
    present in Chromosome: 19
    Position on Chromosome: 6710680
    Alleles of this Variant: C/T

rs1449441916 in C3 gene and COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE PMID 7961791 1994 Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.