Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199475613
rs199475613
PAH
1.000 0.120 12 102855331 missense variant C/A;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015