Variant: rs1037293795

present in Gene: PAH present in Chromosome: 12 Position on Chromosome: 102843698 Alleles of this Variant: G/A

rs1037293795 in PAH gene and Classical phenylketonuria PMID 24350308 2013 Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

PMID 22763404 2012 Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.