Variant: rs1057516645 

    present in Gene: CBS
    present in Chromosome: 21
    Position on Chromosome: 43058871
    Alleles of this Variant: T/A

rs1057516645 in CBS gene and Cystathionine beta-Synthase Deficiency Disease PMID 16307898 2006 Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.