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: rs62514953
rs62514953
PAH
1.000 0.120 12 102852839 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014