rs2270968
|
1.000 |
0.040 |
3 |
183037421 |
missense variant |
T/A;G
|
snv
|
0.63
|
|
Parkinson Disease
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
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 |
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 |
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 |
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 |
rs119103214
|
1.000 |
0.120 |
3 |
183037218 |
missense variant |
C/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103215
|
1.000 |
0.120 |
3 |
183039093 |
missense variant |
A/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103216
|
1.000 |
0.120 |
3 |
183034068 |
missense variant |
G/A
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103218
|
1.000 |
0.120 |
3 |
183037432 |
missense variant |
A/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1229069160
|
1.000 |
0.120 |
3 |
183072457 |
missense variant |
C/T
|
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 |
|
|
rs1311374961
|
1.000 |
0.120 |
3 |
183092510 |
frameshift variant |
CT/-
|
delins
|
4.0E-06
|
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 |
|
0 |
|
|
rs1326114075
|
1.000 |
0.120 |
3 |
183057318 |
missense variant |
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 |
|
|
rs1333357031
|
1.000 |
0.120 |
3 |
183041687 |
missense variant |
C/T
|
snv
|
|
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 |
|
0 |
|
|
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 |
|
|
rs1553850609
|
1.000 |
0.120 |
3 |
183022454 |
frameshift variant |
TTCGCTTTACTAGC/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553856095
|
1.000 |
0.120 |
3 |
183045508 |
frameshift variant |
AT/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560224024
|
1.000 |
0.120 |
3 |
183041571 |
frameshift variant |
GTACTCC/-
|
delins
|
|
|
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 |
|
|
rs199914879
|
1.000 |
0.120 |
3 |
183071208 |
splice donor variant |
A/T
|
snv
|
8.0E-06
|
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 |
|
0 |
|
|
rs398124350
|
1.000 |
0.120 |
3 |
183045422 |
frameshift variant |
C/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727504004
|
1.000 |
0.120 |
3 |
183071066 |
missense variant |
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 |
|
|
rs748201122
|
1.000 |
0.120 |
3 |
183071310 |
missense variant |
C/A;T
|
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 |
|
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 |
|
|
rs754460336
|
1.000 |
0.120 |
3 |
183092486 |
missense variant |
G/A
|
snv
|
6.4E-05
|
5.6E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|