rs121434368
|
0.925 |
0.120 |
19 |
12899471 |
missense variant |
C/T
|
snv
|
|
|
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1277384196
|
0.925 |
0.120 |
19 |
12899507 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1277384196
|
0.925 |
0.120 |
19 |
12899507 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs766518430
|
1.000 |
0.120 |
19 |
12896338 |
missense variant |
C/T
|
snv
|
2.0E-05
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1998 |
2015 |
rs199999619
|
1.000 |
0.120 |
19 |
12899466 |
splice acceptor variant |
A/C;G
|
snv
|
8.8E-05
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2000 |
2019 |
rs886043840
|
1.000 |
0.120 |
19 |
12893504 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2000 |
2017 |
rs1205368991
|
1.000 |
0.120 |
19 |
12896980 |
missense variant |
G/C
|
snv
|
|
1.4E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs1282266790
|
1.000 |
0.120 |
19 |
12897794 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs151201155
|
1.000 |
0.120 |
19 |
12899485 |
missense variant |
G/A
|
snv
|
2.0E-04
|
6.0E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs1555751379
|
1.000 |
0.120 |
19 |
12897840 |
missense variant |
T/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs745357523
|
1.000 |
0.120 |
19 |
12896365 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs751742575
|
1.000 |
0.120 |
19 |
12896401 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs764608975
|
1.000 |
0.120 |
19 |
12897768 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs776758971
|
1.000 |
0.120 |
19 |
12893492 |
missense variant |
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2014 |
rs748275416
|
1.000 |
0.120 |
19 |
12897410 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2016 |
rs752334462
|
1.000 |
0.120 |
19 |
12893530 |
stop gained |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2000 |
2014 |
rs755586631
|
1.000 |
0.120 |
19 |
12893531 |
missense variant |
G/A
|
snv
|
2.4E-05
|
1.4E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2000 |
2015 |
rs761765983
|
1.000 |
0.120 |
19 |
12896949 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2019 |
rs1057516344
|
1.000 |
0.120 |
19 |
12896312 |
missense variant |
C/T
|
snv
|
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2006 |
rs1260580183
|
1.000 |
0.120 |
19 |
12896971 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1996 |
2013 |
rs749452002
|
1.000 |
0.120 |
19 |
12896018 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1996 |
2011 |
rs752127949
|
1.000 |
0.120 |
19 |
12897776 |
stop gained |
C/G;T
|
snv
|
1.6E-05;
8.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1996 |
2017 |
rs758503371
|
1.000 |
0.120 |
19 |
12896333 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2016 |
rs776082304
|
1.000 |
0.120 |
19 |
12897859 |
stop gained |
C/A;G;T
|
snv
|
4.0E-05
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1995 |
2010 |
rs1273164833
|
1.000 |
0.120 |
19 |
12892145 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1996 |
2017 |