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: rs62516141
rs62516141
PAH
1.000 0.120 12 102843688 missense variant T/C snv 2.0E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 20 1991 2016
dbSNP: rs62517168
rs62517168
PAH
1.000 0.120 12 102851752 missense variant T/A snv 1.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 20 1991 2015
dbSNP: rs62642933
rs62642933
PAH
1.000 0.120 12 102851703 missense variant A/C snv 1.0E-04 7.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 20 1991 2012
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 20 1991 2016
dbSNP: rs199475655
rs199475655
PAH
1.000 0.120 12 102866597 missense variant G/C snv 2.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 12 1992 2015
dbSNP: rs118203921
rs118203921
PAH
1.000 0.120 12 102852881 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1991 2015
dbSNP: rs118203923
rs118203923
PAH
1.000 0.120 12 102852926 missense variant G/A snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 2012 2014
dbSNP: rs5030841
rs5030841
PAH
0.925 0.120 12 102912816 missense variant A/G snv 1.2E-04 2.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1991 2015
dbSNP: rs5030845
rs5030845
PAH
1.000 0.120 12 102855151 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1995 2014
dbSNP: rs5030859
rs5030859
PAH
1.000 0.120 12 102840492 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1992 2015
dbSNP: rs62507262
rs62507262
PAH
1.000 0.120 12 102852824 missense variant G/A;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1993 2015
dbSNP: rs62508692
rs62508692
PAH
1.000 0.120 12 102852852 missense variant T/C;G snv 2.4E-05; 9.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1998 2014
dbSNP: rs62516152
rs62516152
PAH
1.000 0.120 12 102855154 missense variant C/T snv 5.4E-04 3.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1993 2014
dbSNP: rs62517205
rs62517205
PAH
0.925 0.120 12 102855241 missense variant G/A snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1998 2014
dbSNP: rs62644465
rs62644465
PAH
1.000 0.120 12 102840496 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1997 2014
dbSNP: rs62644501
rs62644501
PAH
1.000 0.120 12 102840463 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1994 2017
dbSNP: rs62644503
rs62644503
PAH
1.000 0.120 12 102852902 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1994 2018
dbSNP: rs75166491
rs75166491
PAH
1.000 0.120 12 102866633 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1992 2015
dbSNP: rs77958223
rs77958223
PAH
1.000 0.120 12 102855309 missense variant T/A;C snv 7.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1994 2016
dbSNP: rs78655458
rs78655458
PAH
1.000 0.120 12 102852828 missense variant A/C snv 1.6E-05 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 3 1991 2014
dbSNP: rs5030844
rs5030844
PAH
1.000 0.120 12 102855261 missense variant A/G snv 2.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 0 1994 2015
dbSNP: rs5030851
rs5030851
PAH
0.925 0.160 12 102852815 missense variant G/A snv 1.0E-04 1.3E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 0 1991 2015
dbSNP: rs62516151
rs62516151
PAH
0.925 0.120 12 102894826 missense variant G/T snv 7.6E-05 4.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 0 1994 2017
dbSNP: rs62642934
rs62642934
PAH
0.925 0.120 12 102846948 missense variant T/C snv 2.0E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 0 1992 2015
dbSNP: rs62642937
rs62642937
PAH
0.925 0.120 12 102843706 missense variant G/A snv 4.4E-04 3.6E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria
0.800 1.000 0 1993 2016