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: rs5030858
rs5030858
PAH
0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.900 1.000 3 1987 2019
dbSNP: rs5030849
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.830 1.000 3 1989 2015
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 23 1989 2014
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 23 1991 2015
dbSNP: rs74603784
rs74603784
PAH
1.000 0.120 12 102912823 missense variant C/G;T snv 7.6E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 1.000 23 1991 2017
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 20 1991 2016
dbSNP: rs5030843
rs5030843
PAH
1.000 0.120 12 102866632 missense variant C/G;T snv 8.0E-06; 9.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 1.000 3 1989 2015
dbSNP: rs5030857
rs5030857
PAH
0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 1.000 3 1993 2015
dbSNP: rs5030860
rs5030860
PAH
0.925 0.120 12 102840474 missense variant T/C snv 3.7E-04 2.4E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 1.000 3 1991 2016
dbSNP: rs75193786
rs75193786
PAH
0.925 0.120 12 102894893 missense variant A/C;G;T snv 2.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 1.000 3 1992 2016
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 31 1991 2014
dbSNP: rs199475598
rs199475598
PAH
0.925 0.120 12 102912794 missense variant A/C snv 1.7E-04 2.2E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 28 1991 2018
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 23 1991 2018
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 23 1991 2016
dbSNP: rs62516092
rs62516092
PAH
1.000 0.120 12 102844359 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2015
dbSNP: rs62516103
rs62516103
PAH
1.000 0.120 12 102843662 missense variant C/G snv 2.0E-05 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2014
dbSNP: rs76394784
rs76394784
PAH
1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2015
dbSNP: rs76542238
rs76542238
PAH
1.000 0.120 12 102839194 missense variant G/T snv 8.0E-06 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2014
dbSNP: rs79931499
rs79931499
PAH
1.000 0.120 12 102840477 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2015
dbSNP: rs62514931
rs62514931
PAH
1.000 0.120 12 102855211 missense variant G/T snv 2.4E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 20 1991 2013
dbSNP: rs199475650
rs199475650
PAH
1.000 0.120 12 102846924 missense variant G/A;T snv 8.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 12 1992 2018
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 3 1989 2017
dbSNP: rs5030853
rs5030853
PAH
0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 3 1992 2016
dbSNP: rs5030856
rs5030856
PAH
0.925 0.120 12 102843676 missense variant T/C snv 9.9E-05 7.7E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 3 1993 2016
dbSNP: rs76687508
rs76687508
PAH
0.925 0.120 12 102852936 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 3 1993 2015