rs77931234
|
0.925 |
0.120 |
1 |
75761161 |
missense variant |
A/C;G
|
snv
|
3.3E-03
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.900 |
1.000 |
58 |
1990 |
2020 |
rs121434278
|
0.882 |
0.120 |
1 |
75740094 |
missense variant |
G/A
|
snv
|
4.0E-05
|
7.0E-05
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
21 |
1990 |
2015 |
rs121434280
|
1.000 |
0.080 |
1 |
75732724 |
missense variant |
T/C
|
snv
|
5.0E-04
|
7.1E-04
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
33 |
1990 |
2016 |
rs121434274
|
1.000 |
0.080 |
1 |
75749509 |
missense variant |
G/A
|
snv
|
2.1E-04
|
1.3E-04
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
26 |
1990 |
2015 |
rs200724875
|
1.000 |
0.080 |
1 |
75745823 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
25 |
1990 |
2018 |
rs121434281
|
1.000 |
0.080 |
1 |
75749444 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1990 |
2013 |
rs747268471
|
1.000 |
0.080 |
1 |
75750529 |
missense variant |
G/A
|
snv
|
2.4E-05
|
2.8E-05
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1990 |
2013 |
rs786204631
|
1.000 |
0.080 |
1 |
75761153 |
missense variant |
T/C
|
snv
|
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
19 |
1990 |
2012 |
rs875989859
|
1.000 |
0.080 |
1 |
75733588 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
18 |
1990 |
2010 |
rs121434283
|
1.000 |
0.080 |
1 |
75733603 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
17 |
1990 |
2007 |
rs121434275
|
1.000 |
0.080 |
1 |
75761300 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
16 |
1990 |
2001 |
rs121434276
|
1.000 |
0.080 |
1 |
75749440 |
missense variant |
T/C
|
snv
|
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
16 |
1990 |
2001 |
rs121434277
|
1.000 |
0.080 |
1 |
75734850 |
missense variant |
G/A;T
|
snv
|
8.0E-06
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
16 |
1990 |
2001 |
rs121434279
|
1.000 |
0.080 |
1 |
75740088 |
missense variant |
A/G
|
snv
|
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
16 |
1990 |
2001 |
rs121434282
|
1.000 |
0.080 |
1 |
75749552 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
16 |
1990 |
2001 |
rs398123075
|
1.000 |
0.080 |
1 |
75732889 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
3 |
2004 |
2010 |
rs1215335509
|
1.000 |
0.080 |
1 |
75750514 |
stop gained |
G/A;T
|
snv
|
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
2001 |
2001 |
rs398123072
|
1.000 |
0.080 |
1 |
75732682 |
missense variant |
C/G;T
|
snv
|
3.2E-05
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1993 |
2016 |
rs786204566
|
1.000 |
0.080 |
1 |
75732879 |
frameshift variant |
-/T
|
delins
|
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
2001 |
2012 |
rs1057517356
|
1.000 |
0.080 |
1 |
75734833 |
frameshift variant |
AGTA/-
|
delins
|
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2004 |
2017 |
rs201375579
|
1.000 |
0.080 |
1 |
75749507 |
missense variant |
A/G
|
snv
|
3.2E-04
|
1.7E-04
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2005 |
2014 |
rs373715782
|
1.000 |
0.080 |
1 |
75745822 |
missense variant |
C/T
|
snv
|
2.4E-05
|
1.4E-05
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2005 |
2014 |
rs770273135
|
0.925 |
0.080 |
1 |
75745904 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
8.0E-06
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2001 |
2017 |
rs370523609
|
1.000 |
0.080 |
1 |
75745788 |
non coding transcript exon variant |
G/A
|
snv
|
2.5E-04
|
5.0E-04
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2010 |
2017 |
rs762114560
|
1.000 |
0.080 |
1 |
75732886 |
missense variant |
C/T
|
snv
|
7.2E-05
|
7.0E-05
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2006 |
2012 |