rs121434373
|
1.000 |
0.120 |
19 |
12896249 |
missense variant |
G/A;C
|
snv
|
1.6E-05;
1.8E-04
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
24 |
1995 |
2020 |
rs142967670
|
1.000 |
0.120 |
19 |
12891965 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.8E-05
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
21 |
1995 |
2017 |
rs121434371
|
1.000 |
0.120 |
19 |
12896934 |
missense variant |
G/A;T
|
snv
|
6.0E-05;
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
1995 |
2014 |
rs777201305
|
1.000 |
0.120 |
19 |
12893630 |
missense variant |
G/A
|
snv
|
3.6E-05
|
1.4E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1995 |
2018 |
rs781477694
|
1.000 |
0.120 |
19 |
12897409 |
missense variant |
C/T
|
snv
|
4.0E-06;
3.2E-05
|
3.5E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1995 |
2019 |
rs786204626
|
1.000 |
0.120 |
19 |
12897825 |
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
|
0.800 |
1.000 |
16 |
1995 |
2017 |
rs150938052
|
1.000 |
0.120 |
19 |
12897767 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1995 |
2014 |
rs121434367
|
1.000 |
0.120 |
19 |
12899486 |
missense variant |
C/T
|
snv
|
1.2E-04
|
2.7E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
14 |
1991 |
2017 |
rs121434369
|
1.000 |
0.120 |
19 |
12897824 |
missense variant |
C/T
|
snv
|
3.2E-04
|
1.9E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
14 |
1995 |
2017 |
rs121434372
|
1.000 |
0.120 |
19 |
12897818 |
missense variant |
G/A
|
snv
|
1.1E-04
|
1.4E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
14 |
1995 |
2016 |
rs139851890
|
1.000 |
0.120 |
19 |
12893564 |
missense variant |
C/G;T
|
snv
|
1.6E-05
|
1.4E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2014 |
rs372983141
|
1.000 |
0.120 |
19 |
12897788 |
missense variant |
G/C
|
snv
|
1.2E-05
|
5.6E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1995 |
2014 |
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 |
rs778153326
|
1.000 |
0.120 |
19 |
12897789 |
missense variant |
G/C;T
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1995 |
2014 |
rs1555749239
|
1.000 |
0.120 |
19 |
12891895 |
missense variant |
G/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
9 |
1995 |
2014 |
rs121434368
|
0.925 |
0.120 |
19 |
12899471 |
missense variant |
C/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
8 |
1995 |
2014 |
rs121434370
|
1.000 |
0.120 |
19 |
12897713 |
missense variant |
G/A
|
snv
|
2.8E-05
|
4.2E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
1995 |
2014 |
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 |
rs121434366
|
1.000 |
0.120 |
19 |
12896940 |
missense variant |
T/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
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 |
rs566417795
|
1.000 |
0.120 |
19 |
12892125 |
missense variant |
G/A;T
|
snv
|
1.2E-04;
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2014 |