rs121908418
|
1.000 |
0.080 |
11 |
134258589 |
missense variant |
T/C
|
snv
|
6.8E-05
|
7.0E-05
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
3 |
2003 |
2006 |
rs200620279
|
1.000 |
0.080 |
11 |
134261756 |
missense variant |
G/A
|
snv
|
3.7E-04
|
2.0E-04
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
2006 |
2007 |
rs121908422
|
1.000 |
0.080 |
11 |
134261338 |
missense variant |
G/A
|
snv
|
4.4E-05
|
2.1E-05
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2006 |
rs367857040
|
1.000 |
0.080 |
11 |
134258534 |
stop lost |
G/T
|
snv
|
4.0E-06
|
5.6E-05
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2006 |
rs367996531
|
1.000 |
0.080 |
11 |
134262581 |
missense variant |
A/G
|
snv
|
8.0E-05
|
6.3E-05
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2006 |
rs371449613
|
1.000 |
0.080 |
11 |
134258543 |
missense variant |
G/A
|
snv
|
2.0E-05
|
3.5E-05
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2006 |
rs759877257
|
1.000 |
0.080 |
11 |
134259647 |
missense variant |
G/A
|
snv
|
6.8E-05
|
1.2E-04
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2006 |
rs778823613
|
1.000 |
0.080 |
11 |
134261798 |
missense variant |
C/T
|
snv
|
3.2E-05
|
7.0E-06
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2006 |
rs121908419
|
1.000 |
0.080 |
11 |
134262556 |
missense variant |
G/A
|
snv
|
6.0E-05
|
1.5E-04
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2015 |
rs121908420
|
1.000 |
0.080 |
11 |
134261786 |
missense variant |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908421
|
1.000 |
0.080 |
11 |
134261300 |
missense variant |
C/A;T
|
snv
|
2.0E-05
|
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs374317179
|
1.000 |
0.080 |
11 |
134258518 |
missense variant |
G/A
|
snv
|
4.4E-05
|
1.3E-04
|
Isobutyryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|