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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs779315456
|
1.000 |
0.120 |
19 |
12896994 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.1E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1998 |
2016 |
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 |
rs11085824
|
|
|
19 |
12890733 |
upstream gene variant |
A/G
|
snv
|
|
0.31
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.800 |
1.000 |
2 |
2009 |
2017 |
rs11085824
|
|
|
19 |
12890733 |
upstream gene variant |
A/G
|
snv
|
|
0.31
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.800 |
1.000 |
2 |
2012 |
2016 |
rs567564095
|
1.000 |
0.120 |
19 |
12897764 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.8E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
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 |
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 |