rs5030858
|
0.882 |
0.160 |
12 |
102840493 |
missense variant |
G/A
|
snv
|
7.6E-04
|
9.0E-04
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.900 |
1.000 |
36 |
1987 |
2019 |
rs5030849
|
0.851 |
0.280 |
12 |
102852875 |
missense variant |
C/A;G;T
|
snv
|
2.2E-04
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.830 |
1.000 |
19 |
1989 |
2015 |
rs62516101
|
1.000 |
0.120 |
12 |
102843683 |
missense variant |
C/G;T
|
snv
|
8.4E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
46 |
1991 |
2015 |
rs62508646
|
1.000 |
0.120 |
12 |
102844356 |
missense variant |
A/C;G
|
snv
|
6.8E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
40 |
1991 |
2016 |
rs5030857
|
0.925 |
0.120 |
12 |
102840507 |
missense variant |
G/A
|
snv
|
6.0E-04
|
5.6E-04
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
39 |
1993 |
2015 |
rs74603784
|
1.000 |
0.120 |
12 |
102912823 |
missense variant |
C/G;T
|
snv
|
7.6E-05
|
2.8E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
34 |
1991 |
2017 |
rs62508698
|
1.000 |
0.120 |
12 |
102852819 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
5.6E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
33 |
1989 |
2014 |
rs5030860
|
0.925 |
0.120 |
12 |
102840474 |
missense variant |
T/C
|
snv
|
3.7E-04
|
2.4E-04
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
27 |
1991 |
2016 |
rs75193786
|
0.925 |
0.120 |
12 |
102894893 |
missense variant |
A/C;G;T
|
snv
|
2.7E-04
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
20 |
1992 |
2016 |
rs5030843
|
1.000 |
0.120 |
12 |
102866632 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
9.2E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
19 |
1989 |
2015 |
rs76394784
|
1.000 |
0.120 |
12 |
102894883 |
missense variant |
T/A
|
snv
|
4.8E-05
|
7.0E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
47 |
1991 |
2015 |
rs62508588
|
1.000 |
0.120 |
12 |
102852929 |
missense variant |
C/A;T
|
snv
|
7.6E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
45 |
1991 |
2018 |
rs62516092
|
1.000 |
0.120 |
12 |
102844359 |
missense variant |
G/C
|
snv
|
1.0E-04
|
1.3E-04
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
45 |
1991 |
2015 |
rs199475598
|
0.925 |
0.120 |
12 |
102912794 |
missense variant |
A/C
|
snv
|
1.7E-04
|
2.2E-04
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
41 |
1991 |
2018 |
rs5030847
|
1.000 |
0.120 |
12 |
102852903 |
missense variant |
G/A;C;T
|
snv
|
2.8E-05;
4.0E-06
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
36 |
1989 |
2017 |
rs5030853
|
0.925 |
0.120 |
12 |
102851701 |
missense variant |
C/A
|
snv
|
5.9E-04
|
3.4E-04
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
35 |
1992 |
2016 |
rs62642913
|
1.000 |
0.120 |
12 |
102846935 |
missense variant |
G/A;C;T
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
33 |
1991 |
2014 |
rs62508715
|
1.000 |
0.120 |
12 |
102852833 |
missense variant |
G/A;C
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
31 |
1991 |
2016 |
rs79931499
|
1.000 |
0.120 |
12 |
102840477 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
5.6E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
28 |
1991 |
2015 |
rs62516103
|
1.000 |
0.120 |
12 |
102843662 |
missense variant |
C/G
|
snv
|
2.0E-05
|
7.0E-06
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
27 |
1991 |
2014 |
rs76542238
|
1.000 |
0.120 |
12 |
102839194 |
missense variant |
G/T
|
snv
|
8.0E-06
|
1.4E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
27 |
1991 |
2014 |
rs62514931
|
1.000 |
0.120 |
12 |
102855211 |
missense variant |
G/T
|
snv
|
2.4E-05
|
2.8E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
26 |
1991 |
2013 |
rs5030856
|
0.925 |
0.120 |
12 |
102843676 |
missense variant |
T/C
|
snv
|
9.9E-05
|
7.7E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
23 |
1993 |
2016 |
rs199475650
|
1.000 |
0.120 |
12 |
102846924 |
missense variant |
G/A;T
|
snv
|
8.0E-06
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
21 |
1992 |
2018 |
rs76687508
|
0.925 |
0.120 |
12 |
102852936 |
missense variant |
G/A
|
snv
|
1.4E-04
|
8.4E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
18 |
1993 |
2015 |