rs62508588, PAH

N. diseases: 3
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 102852929 missense variant C/A;T snv 7.6E-05 0.810 1.000 45 1991 2018
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05 0.700 1.000 17 1993 2015
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
46 1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05 0.020 1.000 2 1991 2018