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: rs199475602
rs199475602
PAH
0.925 0.120 12 102855313 missense variant C/G;T snv 2.0E-05; 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 52 1991 2016
dbSNP: rs62508730
rs62508730
PAH
1.000 0.120 12 102852935 missense variant C/A;T snv 4.0E-06; 1.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 51 1991 2015
dbSNP: rs62516101
rs62516101
PAH
1.000 0.120 12 102843683 missense variant C/G;T snv 8.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.820 1.000 46 1991 2015
dbSNP: rs62508588
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.810 1.000 45 1991 2018
dbSNP: rs62508646
rs62508646
PAH
1.000 0.120 12 102844356 missense variant A/C;G snv 6.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.820 1.000 40 1991 2016
dbSNP: rs62516098
rs62516098
PAH
1.000 0.120 12 102843748 missense variant G/T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 39 1991 2015
dbSNP: rs62642935
rs62642935
PAH
1.000 0.120 12 102846938 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 39 1991 2016
dbSNP: rs199475579
rs199475579
PAH
1.000 0.120 12 102852917 missense variant C/A;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 38 1991 2015
dbSNP: rs199475643
rs199475643
PAH
0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 37 1991 2015
dbSNP: rs76212747
rs76212747
PAH
0.925 0.120 12 102852923 missense variant A/G;T snv 4.8E-04; 2.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 37 1991 2016
dbSNP: rs5030847
rs5030847
PAH
1.000 0.120 12 102852903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.810 1.000 36 1989 2017
dbSNP: rs62516109
rs62516109
PAH
1.000 0.120 12 102855204 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 35 1991 2014
dbSNP: rs62642932
rs62642932
PAH
1.000 0.120 12 102852882 missense variant C/T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 35 1991 2014
dbSNP: rs62508698
rs62508698
PAH
1.000 0.120 12 102852819 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.820 1.000 33 1989 2014
dbSNP: rs62642913
rs62642913
PAH
1.000 0.120 12 102846935 missense variant G/A;C;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.810 1.000 33 1991 2014
dbSNP: rs74486803
rs74486803
PAH
0.925 0.120 12 102855315 missense variant C/A;G;T snv 5.2E-05; 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 32 1991 2016
dbSNP: rs199475663
rs199475663
PAH
0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 31 1991 2015
dbSNP: rs62507347
rs62507347
PAH
0.925 0.120 12 102894860 missense variant T/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 31 1991 2014
dbSNP: rs62508715
rs62508715
PAH
1.000 0.120 12 102852833 missense variant G/A;C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.810 1.000 31 1991 2016
dbSNP: rs62514950
rs62514950
PAH
1.000 0.120 12 102852848 missense variant C/T snv 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 31 1991 2015
dbSNP: rs199475582
rs199475582
PAH
1.000 0.120 12 102851755 missense variant C/T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 30 1991 2015
dbSNP: rs199475589
rs199475589
PAH
1.000 0.120 12 102855169 missense variant G/C;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 30 1991 2016
dbSNP: rs62508694
rs62508694
PAH
1.000 0.120 12 102852924 missense variant C/G;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 30 1991 2014
dbSNP: rs62516062
rs62516062
PAH
1.000 0.120 12 102844368 missense variant C/A;T snv 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 30 1991 2014
dbSNP: rs199475578
rs199475578
PAH
1.000 0.120 12 102852933 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 29 1991 2015