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 |
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 |
rs121434368
|
0.925 |
0.120 |
19 |
12899471 |
missense variant |
C/T
|
snv
|
|
|
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
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 |
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 |
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 |
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 |
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 |
rs1230368107
|
1.000 |
0.120 |
19 |
12891307 |
start lost |
G/A;C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1247712895
|
1.000 |
0.120 |
19 |
12896983 |
missense variant |
T/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 |
|
0 |
|
|
rs1257292639
|
1.000 |
0.120 |
19 |
12897391 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
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 |
rs1294124984
|
1.000 |
0.120 |
19 |
12892140 |
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 |
|
0 |
|
|
rs1348974766
|
1.000 |
0.120 |
19 |
12897743 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
rs141437721
|
1.000 |
0.120 |
19 |
12897833 |
missense variant |
A/G
|
snv
|
6.0E-05;
1.6E-05
|
1.7E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
5 |
2007 |
2016 |
rs141456457
|
1.000 |
0.120 |
19 |
12893576 |
missense variant |
T/C
|
snv
|
3.2E-05
|
4.2E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
rs147611168
|
1.000 |
0.120 |
19 |
12897860 |
stop gained |
G/A;T
|
snv
|
4.4E-05
|
1.3E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
4 |
1996 |
2009 |
rs149120354
|
1.000 |
0.120 |
19 |
12896058 |
missense variant |
T/C
|
snv
|
8.0E-05
|
1.7E-04
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
1998 |
2018 |
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 |