rs121918255
|
0.925 |
0.080 |
6 |
49435473 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918254
|
0.925 |
0.080 |
6 |
49440295 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
4.2E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918250
|
0.925 |
0.080 |
6 |
49451668 |
missense variant |
G/T
|
snv
|
|
1.4E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918256
|
0.925 |
0.080 |
6 |
49457789 |
missense variant |
T/A
|
snv
|
6.8E-05
|
2.8E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918258
|
0.851 |
0.200 |
6 |
49457801 |
missense variant |
C/A;T
|
snv
|
|
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs483352778
|
0.925 |
0.080 |
6 |
49459144 |
missense variant |
C/T
|
snv
|
2.0E-05;
4.0E-06
|
1.4E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918257
|
0.925 |
0.080 |
6 |
49459145 |
missense variant |
G/A
|
snv
|
1.2E-04
|
1.4E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918249
|
0.925 |
0.080 |
6 |
49459154 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918251
|
0.925 |
0.080 |
6 |
49459189 |
missense variant |
C/T
|
snv
|
6.4E-05
|
4.2E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121918248
|
0.925 |
0.080 |
6 |
49459415 |
stop gained |
G/A
|
snv
|
|
2.1E-05
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs879253820
|
0.925 |
0.080 |
6 |
49459465 |
start lost |
A/G
|
snv
|
|
|
Methylmalonic Aciduria, mut(0) Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|