rs386833556
|
1.000 |
0.120 |
9 |
6553457 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
8 |
1991 |
2019 |
rs772871471
|
1.000 |
0.120 |
9 |
6587249 |
missense variant |
G/C
|
snv
|
1.6E-05
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
7 |
1991 |
2019 |
rs121964976
|
0.882 |
0.160 |
9 |
6589230 |
missense variant |
C/G;T
|
snv
|
8.7E-05;
2.3E-02
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
13 |
1991 |
2017 |
rs386833589
|
1.000 |
0.120 |
9 |
6605145 |
missense variant |
C/G
|
snv
|
4.0E-06
|
2.1E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
1991 |
2017 |
rs121964974
|
1.000 |
0.120 |
9 |
6588417 |
missense variant |
C/A
|
snv
|
2.1E-04
|
1.5E-04
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1991 |
2017 |
rs150171524
|
1.000 |
0.120 |
9 |
6602147 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
4.0E-06
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1991 |
2017 |
rs386833583
|
0.882 |
0.200 |
9 |
6610222 |
missense variant |
G/A
|
snv
|
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.720 |
1.000 |
2 |
2011 |
2018 |
rs121964977
|
1.000 |
0.120 |
9 |
6553420 |
missense variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs386833565
|
1.000 |
0.120 |
9 |
6540109 |
synonymous variant |
G/T
|
snv
|
8.4E-05
|
8.4E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs121964979
|
0.925 |
0.160 |
9 |
6595109 |
missense variant |
G/A;T
|
snv
|
2.8E-05;
4.0E-06
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2004 |
2017 |
rs1554648117
|
1.000 |
0.120 |
9 |
6605193 |
missense variant |
G/C
|
snv
|
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs761957837
|
1.000 |
0.120 |
9 |
6592871 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs774093619
|
1.000 |
0.120 |
9 |
6602138 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs386833553
|
1.000 |
0.120 |
9 |
6554673 |
missense variant |
C/T
|
snv
|
|
3.5E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2006 |
2015 |
rs386833517
|
1.000 |
0.120 |
9 |
6604637 |
stop gained |
G/A;C
|
snv
|
1.6E-05;
4.0E-06
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs386833524
|
1.000 |
0.120 |
9 |
6592870 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs386833554
|
1.000 |
0.120 |
9 |
6553510 |
splice acceptor variant |
C/T
|
snv
|
3.2E-05
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs386833587
|
1.000 |
0.120 |
9 |
6605186 |
missense variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs1554646710
|
1.000 |
0.120 |
9 |
6589193 |
splice donor variant |
A/C
|
snv
|
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs386833521
|
1.000 |
0.120 |
9 |
6592982 |
stop gained |
G/A
|
snv
|
2.0E-05
|
7.2E-06
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs386833531
|
1.000 |
0.120 |
9 |
6587205 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs1207147043
|
1.000 |
0.120 |
9 |
6604735 |
missense variant |
G/A
|
snv
|
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs1406713104
|
1.000 |
0.120 |
9 |
6533100 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2017 |
2017 |
rs149070244
|
1.000 |
0.120 |
9 |
6540050 |
splice donor variant |
C/G;T
|
snv
|
2.0E-05
|
2.8E-05
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2017 |
rs1554643619
|
1.000 |
0.120 |
9 |
6553502 |
missense variant |
G/A
|
snv
|
|
|
Nonketotic Hyperglycinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2017 |