rs1057520695
|
1.000 |
0.120 |
3 |
183092514 |
missense variant |
G/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs186209189
|
1.000 |
0.120 |
3 |
183071223 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs199517715
|
1.000 |
0.120 |
3 |
183092545 |
missense variant |
C/T
|
snv
|
4.0E-05
|
3.5E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs201041864
|
1.000 |
0.120 |
3 |
183057312 |
missense variant |
G/A
|
snv
|
1.4E-04
|
1.0E-04
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs201386261
|
1.000 |
0.120 |
3 |
183041738 |
missense variant |
C/T
|
snv
|
2.4E-05
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs202197951
|
1.000 |
0.120 |
3 |
183072469 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs376289130
|
1.000 |
0.120 |
3 |
183039101 |
missense variant |
A/C;G
|
snv
|
4.0E-05
|
1.1E-04
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs398124352
|
1.000 |
0.120 |
3 |
183039088 |
missense variant |
C/A;G;T
|
snv
|
3.2E-05;
4.0E-06;
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs746500530
|
1.000 |
0.120 |
3 |
183057321 |
missense variant |
T/C
|
snv
|
2.5E-05
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs754437245
|
1.000 |
0.120 |
3 |
183057342 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs755328329
|
1.000 |
0.120 |
3 |
183041719 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs768785753
|
1.000 |
0.120 |
3 |
183039072 |
missense variant |
C/T
|
snv
|
2.8E-05
|
3.5E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103213
|
1.000 |
0.120 |
3 |
183041679 |
missense variant |
T/G
|
snv
|
1.3E-04
|
7.7E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2001 |
2015 |
rs12637471
|
0.925 |
0.080 |
3 |
183044649 |
intron variant |
G/A
|
snv
|
|
0.24
|
Parkinson Disease
|
Nervous System Diseases
|
0.730 |
1.000 |
5 |
2014 |
2019 |
rs11711441
|
1.000 |
0.040 |
3 |
183103487 |
intron variant |
G/A
|
snv
|
|
0.12
|
Parkinson Disease
|
Nervous System Diseases
|
0.810 |
1.000 |
4 |
2011 |
2013 |
rs772395858
|
1.000 |
0.120 |
3 |
183071122 |
splice acceptor variant |
T/C
|
snv
|
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2016 |
rs119103212
|
0.925 |
0.120 |
3 |
183045522 |
missense variant |
A/C
|
snv
|
1.6E-05
|
5.6E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
3 |
2001 |
2015 |
rs776641008
|
1.000 |
0.120 |
3 |
183020102 |
splice donor variant |
TCATTCTACAGATGTCATGTGATTACCTTTTCA/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2012 |
rs119103212
|
0.925 |
0.120 |
3 |
183045522 |
missense variant |
A/C
|
snv
|
1.6E-05
|
5.6E-05
|
Methylcrotonyl-CoA carboxylase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2015 |
rs727504002
|
1.000 |
0.120 |
3 |
183037286 |
frameshift variant |
C/-
|
del
|
1.2E-05
|
2.8E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2012 |
rs762463137
|
1.000 |
0.120 |
3 |
183041570 |
frameshift variant |
-/C
|
delins
|
4.0E-05;
8.0E-06
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2005 |
rs10513789
|
1.000 |
0.040 |
3 |
183042285 |
intron variant |
T/G
|
snv
|
|
0.22
|
Parkinson Disease
|
Nervous System Diseases
|
0.800 |
1.000 |
1 |
2011 |
2011 |
rs12637471
|
0.925 |
0.080 |
3 |
183044649 |
intron variant |
G/A
|
snv
|
|
0.24
|
Alzheimer's Disease
|
Nervous System Diseases; Mental Disorders
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs12638619
|
1.000 |
0.040 |
3 |
183081454 |
intron variant |
C/T
|
snv
|
|
0.17
|
Parkinson Disease
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1394547323
|
1.000 |
0.120 |
3 |
183033992 |
frameshift variant |
-/T
|
delins
|
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |