Variant: rs1057516679 

    present in Gene: FAH
    present in Chromosome: 15
    Position on Chromosome: 80162336
    Alleles of this Variant: G/A;C

rs1057516679 in FAH gene and Tyrosinemia, Type I PMID 23225041 2012 [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].