Source: ALL

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: rs62516103
rs62516103
PAH
1.000 0.120 12 102843662 missense variant C/G snv 2.0E-05 7.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2002 2002
dbSNP: rs76542238
rs76542238
PAH
1.000 0.120 12 102839194 missense variant G/T snv 8.0E-06 1.4E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1998 1998
dbSNP: rs62514903
rs62514903
PAH
0.925 0.120 12 102894812 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1998 1998
dbSNP: rs773526027
rs773526027
PAH
1.000 0.120 12 102840497 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2019 2019
dbSNP: rs74603784
rs74603784
PAH
1.000 0.120 12 102912823 missense variant C/G;T snv 7.6E-05 2.8E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 1996 2011
dbSNP: rs5030859
rs5030859
PAH
1.000 0.120 12 102840492 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 1.000 3 1992 2004
dbSNP: rs5030846
rs5030846
PAH
1.000 0.120 12 102852930 stop gained G/A snv 4.4E-05 4.2E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1995 1995
dbSNP: rs76296470
rs76296470
PAH
1.000 0.120 12 102894756 stop gained G/A snv 2.8E-05 4.2E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 2000 2003
dbSNP: rs62514952
rs62514952
PAH
1.000 0.120 12 102852843 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 1.000 4 1990 1996
dbSNP: rs76394784
rs76394784
PAH
1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 2000 2019
dbSNP: rs5030856
rs5030856
PAH
0.925 0.120 12 102843676 missense variant T/C snv 9.9E-05 7.7E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 1999 2006
dbSNP: rs76687508
rs76687508
PAH
0.925 0.120 12 102852936 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2004 2004
dbSNP: rs62642926
rs62642926
PAH
1.000 0.120 12 102912842 missense variant G/C snv 9.5E-05 9.1E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2000 2000
dbSNP: rs62644499
rs62644499
PAH
0.925 0.120 12 102840472 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1998 1998
dbSNP: rs5030851
rs5030851
PAH
0.925 0.160 12 102852815 missense variant G/A snv 1.0E-04 1.3E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 2003 2012
dbSNP: rs62516092
rs62516092
PAH
1.000 0.120 12 102844359 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2000 2000
dbSNP: rs5030841
rs5030841
PAH
0.925 0.120 12 102912816 missense variant A/G snv 1.2E-04 2.0E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 1.000 3 1991 2006
dbSNP: rs5030860
rs5030860
PAH
0.925 0.120 12 102840474 missense variant T/C snv 3.7E-04 2.4E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1995 1995
dbSNP: rs5030853
rs5030853
PAH
0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1996 1996
dbSNP: rs62642937
rs62642937
PAH
0.925 0.120 12 102843706 missense variant G/A snv 4.4E-04 3.6E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1994 1994
dbSNP: rs5030858
rs5030858
PAH
0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.100 1.000 18 1991 2019