rs199475599
|
1.000 |
0.120 |
12 |
102877467 |
missense variant |
G/A
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475601
|
1.000 |
0.120 |
12 |
102866626 |
missense variant |
T/C;G
|
snv
|
8.0E-06
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475607
|
1.000 |
0.120 |
12 |
102840426 |
missense variant |
A/G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475608
|
1.000 |
0.120 |
12 |
102851692 |
missense variant |
A/C;G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475610
|
1.000 |
0.120 |
12 |
102852920 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475612
|
1.000 |
0.120 |
12 |
102866634 |
missense variant |
T/C;G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475651
|
1.000 |
0.120 |
12 |
102894906 |
missense variant |
T/C
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs199475664
|
1.000 |
0.120 |
12 |
102855295 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs5030852
|
1.000 |
0.120 |
12 |
102852814 |
splice donor variant |
C/A;T
|
snv
|
4.4E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2015 |
rs62507279
|
1.000 |
0.120 |
12 |
102844355 |
stop gained |
G/A;T
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62507282
|
1.000 |
0.120 |
12 |
102844377 |
missense variant |
C/G;T
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508572
|
1.000 |
0.120 |
12 |
102855223 |
missense variant |
T/C
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508577
|
1.000 |
0.120 |
12 |
102855150 |
missense variant |
G/A
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508580
|
1.000 |
0.120 |
12 |
102844411 |
missense variant |
C/G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508593
|
1.000 |
0.120 |
12 |
102855228 |
missense variant |
T/G
|
snv
|
2.0E-05
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508594
|
1.000 |
0.120 |
12 |
102852938 |
missense variant |
A/G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508615
|
1.000 |
0.120 |
12 |
102855164 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62508679
|
1.000 |
0.120 |
12 |
102844371 |
missense variant |
C/G;T
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62514903
|
0.925 |
0.120 |
12 |
102894812 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62514951
|
1.000 |
0.120 |
12 |
102852847 |
missense variant |
T/A
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62516060
|
0.925 |
0.120 |
12 |
102844404 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62516102
|
1.000 |
0.120 |
12 |
102843664 |
missense variant |
T/G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62516153
|
1.000 |
0.120 |
12 |
102844379 |
missense variant |
T/C;G
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62516154
|
1.000 |
0.120 |
12 |
102844362 |
missense variant |
G/A
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |
rs62516156
|
1.000 |
0.120 |
12 |
102852825 |
missense variant |
T/C
|
snv
|
|
|
Classical phenylketonuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1991 |
2012 |