rs121964954
|
0.882 |
0.160 |
4 |
158682269 |
missense variant |
G/A
|
snv
|
1.4E-04
|
3.5E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.830 |
1.000 |
12 |
2003 |
2019 |
rs398124152
|
1.000 |
0.080 |
4 |
158706270 |
missense variant |
C/T
|
snv
|
4.4E-05
|
5.6E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
7 |
2003 |
2016 |
rs121964956
|
0.925 |
0.080 |
4 |
158682399 |
missense variant |
T/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
6 |
2003 |
2010 |
rs387907170
|
0.925 |
0.080 |
4 |
158703436 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
6 |
2003 |
2010 |
rs377656387
|
0.925 |
0.080 |
4 |
158706351 |
missense variant |
C/T
|
snv
|
2.4E-05
|
2.8E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
4 |
2007 |
2014 |
rs377686388
|
1.000 |
0.080 |
4 |
158699015 |
missense variant |
T/C
|
snv
|
2.4E-05
|
2.8E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
2003 |
2007 |
rs779896449
|
1.000 |
0.080 |
4 |
158684599 |
missense variant |
T/G
|
snv
|
8.0E-06
|
1.4E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs549150456
|
1.000 |
0.080 |
4 |
158684649 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs121964955
|
0.925 |
0.080 |
4 |
158685137 |
missense variant |
G/A;C;T
|
snv
|
1.6E-05;
8.0E-06
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2003 |
2010 |
rs761669036
|
1.000 |
0.080 |
4 |
158708505 |
missense variant |
G/A
|
snv
|
2.8E-05
|
2.1E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2003 |
2010 |
rs887871605
|
1.000 |
0.080 |
4 |
158682264 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2003 |
2010 |
rs200920510
|
1.000 |
0.080 |
4 |
158706761 |
missense variant |
C/T
|
snv
|
2.4E-05
|
1.4E-05
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs780768015
|
1.000 |
0.080 |
4 |
158706691 |
missense variant |
G/A
|
snv
|
2.0E-05
|
1.5E-04
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2012 |
2014 |
rs796051964
|
1.000 |
0.080 |
4 |
158680482 |
frameshift variant |
-/T
|
delins
|
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2007 |
rs746598421
|
1.000 |
0.080 |
4 |
158706317 |
missense variant |
G/A
|
snv
|
3.6E-05
|
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2003 |
2012 |
rs767046886
|
1.000 |
0.080 |
4 |
158703592 |
splice donor variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2013 |
rs773668457
|
1.000 |
0.080 |
4 |
158680553 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
7.0E-06
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2003 |
2014 |
rs17843966
|
|
|
4 |
158708662 |
3 prime UTR variant |
A/C
|
snv
|
|
0.21
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs8396
|
|
|
4 |
158709665 |
3 prime UTR variant |
T/C
|
snv
|
|
0.29
|
Glucose measurement
|
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs8396
|
|
|
4 |
158709665 |
3 prime UTR variant |
T/C
|
snv
|
|
0.29
|
elevated blood glucose level
|
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs8396
|
|
|
4 |
158709665 |
3 prime UTR variant |
T/C
|
snv
|
|
0.29
|
Acylcarnitines measurement
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs8396
|
|
|
4 |
158709665 |
3 prime UTR variant |
T/C
|
snv
|
|
0.29
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs121964953
|
1.000 |
|
4 |
158672458 |
start lost |
T/C
|
snv
|
|
|
GLUTARIC ACIDEMIA IIC
|
|
0.700 |
|
0 |
|
|
rs121964954
|
0.882 |
0.160 |
4 |
158682269 |
missense variant |
G/A
|
snv
|
1.4E-04
|
3.5E-05
|
GLUTARIC ACIDEMIA IIC
|
|
0.700 |
|
0 |
|
|
rs121964955
|
0.925 |
0.080 |
4 |
158685137 |
missense variant |
G/A;C;T
|
snv
|
1.6E-05;
8.0E-06
|
|
GLUTARIC ACIDEMIA IIC
|
|
0.700 |
|
0 |
|
|