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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs398123190
|
1.000 |
0.120 |
19 |
12897777 |
missense variant |
G/A;C
|
snv
|
8.0E-06;
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 |
4 |
2000 |
2019 |
rs745360675
|
1.000 |
0.120 |
19 |
12899510 |
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 |
3 |
1998 |
2014 |
rs754002357
|
1.000 |
0.120 |
19 |
12897787 |
frameshift variant |
G/-;GG
|
delins
|
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 |
3 |
1996 |
2015 |
rs1555751995
|
1.000 |
0.120 |
19 |
12899541 |
stop lost |
A/G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2010 |
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 |
rs17706531
|
|
|
19 |
12904716 |
non coding transcript exon variant |
A/G
|
snv
|
0.33
|
0.30
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |