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: rs62508698
rs62508698
PAH
1.000 0.120 12 102852819 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 1989 1997
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: 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
dbSNP: rs5030849
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 1.000 4 1991 2002
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: rs62508588
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 1991 2018
dbSNP: rs62514927
rs62514927
PAH
1.000 0.120 12 102855231 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1991 1991
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: rs75193786
rs75193786
PAH
0.925 0.120 12 102894893 missense variant A/C;G;T snv 2.7E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 1.000 4 1993 2001
dbSNP: rs62508646
rs62508646
PAH
1.000 0.120 12 102844356 missense variant A/C;G snv 6.8E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 1993 1995
dbSNP: rs5030847
rs5030847
PAH
1.000 0.120 12 102852903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 1.000 3 1994 2011
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: rs76212747
rs76212747
PAH
0.925 0.120 12 102852923 missense variant A/G;T snv 4.8E-04; 2.4E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1994 1994
dbSNP: rs796052017
rs796052017
PAH
0.925 0.120 12 102852922 missense variant CA/TG mnv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1994 1994
dbSNP: rs62516101
rs62516101
PAH
1.000 0.120 12 102843683 missense variant C/G;T snv 8.4E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 1.000 3 1995 1998
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: 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: 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: rs199475572
rs199475572
PAH
1.000 0.120 12 102877475 missense variant T/A;C snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1996 1996
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: rs62508721
rs62508721
PAH
1.000 0.120 12 102855222 missense variant T/C snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1997 1997
dbSNP: rs62507329
rs62507329
PAH
1.000 0.120 12 102843761 missense variant G/A;T snv 4.0E-06
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: 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: 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