rs28940889
|
1.000 |
0.080 |
15 |
40415454 |
missense variant |
C/T
|
snv
|
6.4E-04
|
7.5E-04
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
10 |
1991 |
2017 |
rs2229311
|
1.000 |
0.080 |
15 |
40407640 |
missense variant |
G/A;C;T
|
snv
|
2.8E-05;
1.6E-05;
4.0E-06
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1998 |
2017 |
rs773560012
|
1.000 |
0.080 |
15 |
40418190 |
missense variant |
A/G
|
snv
|
1.6E-05
|
7.0E-06
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
9 |
1991 |
2017 |
rs142761835
|
1.000 |
0.080 |
15 |
40410699 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.3E-04
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
8 |
1991 |
2017 |
rs371427844
|
1.000 |
0.080 |
15 |
40418165 |
missense variant |
C/T
|
snv
|
4.0E-06
|
4.2E-05
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
6 |
1991 |
2017 |
rs1477527791
|
1.000 |
0.080 |
15 |
40418175 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
2012 |
2014 |
rs121434284
|
0.925 |
0.080 |
15 |
40405952 |
missense variant |
T/C
|
snv
|
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs121434285
|
0.925 |
0.080 |
15 |
40411600 |
missense variant |
G/T
|
snv
|
8.0E-06;
8.0E-06
|
2.1E-05
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs754600862
|
1.000 |
0.080 |
15 |
40416336 |
missense variant |
T/C
|
snv
|
8.0E-06
|
7.0E-06
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs760822119
|
1.000 |
0.080 |
15 |
40416293 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs398123683
|
1.000 |
0.080 |
15 |
40410799 |
splice donor variant |
T/C
|
snv
|
2.0E-05
|
1.4E-05
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2000 |
2014 |
rs34695403
|
1.000 |
0.080 |
15 |
40407639 |
missense variant |
C/G;T
|
snv
|
2.4E-05;
1.2E-05
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2007 |
rs786204427
|
1.000 |
0.080 |
15 |
40411257 |
splice acceptor variant |
CA/GG
|
mnv
|
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2011 |
rs786204613
|
1.000 |
0.080 |
15 |
40418168 |
frameshift variant |
T/-
|
delins
|
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1991 |
2012 |
rs1555404784
|
1.000 |
0.080 |
15 |
40414888 |
splice acceptor variant |
G/A
|
snv
|
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2000 |
rs373594717
|
1.000 |
0.080 |
15 |
40405819 |
start lost |
A/C;G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1990 |
1992 |
rs566691073
|
1.000 |
0.080 |
15 |
40405820 |
start lost |
T/C;G
|
snv
|
1.6E-05
|
7.0E-06
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1990 |
1992 |
rs769048174
|
1.000 |
0.080 |
15 |
40410722 |
frameshift variant |
T/-
|
del
|
|
7.0E-06
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2013 |
rs771914739
|
1.000 |
0.080 |
15 |
40411258 |
splice acceptor variant |
A/C;G
|
snv
|
4.0E-06;
8.0E-06
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2007 |
rs1398838997
|
1.000 |
0.080 |
15 |
40410627 |
splice acceptor variant |
G/A
|
snv
|
|
3.5E-05
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1555405428
|
1.000 |
0.080 |
15 |
40418219 |
frameshift variant |
GGCGGCTGGTCATCGGCAGAGCCTTCAA/-
|
delins
|
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs759159766
|
1.000 |
0.080 |
15 |
40414968 |
frameshift variant |
-/G
|
delins
|
1.2E-05;
8.0E-06
|
7.0E-06
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs763422682
|
1.000 |
0.080 |
15 |
40418196 |
missense variant |
T/C
|
snv
|
8.0E-06
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs776015412
|
1.000 |
0.080 |
15 |
40410690 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs796051983
|
1.000 |
0.080 |
15 |
40415412 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Isovaleryl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |