rs5030859, PAH

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
385 1.000 0.120 12 102840492 missense variant C/T snv 4.8E-05 3.5E-05 0.800 1.000 11 1992 2015
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
46 1.000 0.120 12 102840492 missense variant C/T snv 4.8E-05 3.5E-05 0.030 1.000 3 1992 2004