rs5030849, PAH

N. diseases: 6
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 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.830 1.000 19 1989 2015
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
46 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.040 1.000 4 1991 2002
Hyperphenylalaninaemia
CUI: C0751435
Disease: Hyperphenylalaninaemia
38 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.020 1.000 2 1991 1993
Phenylketonuria, Maternal
CUI: C0085547
Disease: Phenylketonuria, Maternal
2 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.020 1.000 2 1991 1993
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.010 1.000 1 1991 1991
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.010 1.000 1 1991 1991