rs121907987
|
1.000 |
0.240 |
1 |
119743906 |
missense variant |
G/A
|
snv
|
1.5E-04
|
5.6E-05
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
3 |
2000 |
2009 |
rs121907988
|
1.000 |
0.240 |
1 |
119742870 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2000 |
2009 |
rs267606947
|
0.925 |
0.320 |
1 |
119735432 |
missense variant |
G/A
|
snv
|
|
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2000 |
2009 |
rs267606948
|
0.925 |
0.320 |
1 |
119741817 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2000 |
2009 |
rs201553627
|
1.000 |
0.240 |
1 |
119741805 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
4.0E-05
|
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2000 |
2009 |
rs267606949
|
1.000 |
0.240 |
1 |
119726897 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
3.6E-05;
2.0E-05
|
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2000 |
2009 |
rs730882181
|
1.000 |
0.240 |
1 |
119735363 |
frameshift variant |
G/-
|
delins
|
|
7.0E-06
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs769256568
|
0.925 |
0.320 |
1 |
119740470 |
stop gained |
C/T
|
snv
|
1.7E-05
|
1.4E-05
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs775936961
|
1.000 |
0.240 |
1 |
119737118 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Phosphoglycerate Dehydrogenase Deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|