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 |
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 |
rs7640612
|
1.000 |
0.040 |
3 |
183025479 |
intron variant |
C/A
|
snv
|
|
0.50
|
Parkinson Disease
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs9822789
|
1.000 |
0.040 |
3 |
183085086 |
intron variant |
G/T
|
snv
|
|
0.17
|
Parkinson Disease
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1484347924
|
1.000 |
0.120 |
3 |
183041609 |
stop gained |
G/A
|
snv
|
4.0E-06
|
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 |
1 |
2006 |
2006 |
rs544349961
|
1.000 |
0.120 |
3 |
183041720 |
stop gained |
G/A
|
snv
|
2.4E-05
|
4.9E-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 |
2012 |
2012 |
rs905321122
|
1.000 |
0.120 |
3 |
183020177 |
stop gained |
C/A;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 |
1 |
2012 |
2012 |
rs150862707
|
1.000 |
0.120 |
3 |
183052169 |
stop gained |
A/G;T
|
snv
|
4.1E-04;
1.2E-05
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560256569
|
1.000 |
0.120 |
3 |
183071018 |
stop gained |
TCTC/GCTATGCTAT
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs185741664
|
1.000 |
0.120 |
3 |
183057343 |
stop gained |
G/A
|
snv
|
4.5E-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 |
|
0 |
|
|
rs750484977
|
1.000 |
0.120 |
3 |
183045516 |
stop gained |
G/C
|
snv
|
8.0E-06
|
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 |
|
0 |
|
|
rs920162850
|
1.000 |
0.120 |
3 |
183086719 |
stop gained |
G/A
|
snv
|
|
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 |
|
0 |
|
|
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 |