rs104894631
|
1.000 |
0.160 |
17 |
47946780 |
stop lost |
T/C
|
snv
|
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs267606958
|
1.000 |
0.160 |
17 |
47945963 |
stop gained |
C/T
|
snv
|
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs550423482
|
0.882 |
0.160 |
17 |
47946670 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Growth delay
|
|
0.700 |
|
0 |
|
|
rs550423482
|
0.882 |
0.160 |
17 |
47946670 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs550423482
|
0.882 |
0.160 |
17 |
47946670 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Intrauterine retardation
|
|
0.700 |
|
0 |
|
|
rs774710082
|
1.000 |
0.160 |
17 |
47945558 |
splice acceptor variant |
G/A
|
snv
|
1.6E-05
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs780977054
|
1.000 |
0.160 |
17 |
47944614 |
splice acceptor variant |
A/G
|
snv
|
4.0E-06
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs796052872
|
1.000 |
0.160 |
17 |
47945888 |
frameshift variant |
CCTG/-
|
delins
|
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs550423482
|
0.882 |
0.160 |
17 |
47946670 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
2005 |
2017 |
rs104894629
|
0.925 |
0.160 |
17 |
47946681 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2005 |
2017 |
rs2325751
|
1.000 |
0.040 |
17 |
47940435 |
intron variant |
T/G
|
snv
|
|
0.50
|
Schizophrenia
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs104894629
|
0.925 |
0.160 |
17 |
47946681 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Epileptic encephalopathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs370243877
|
1.000 |
0.160 |
17 |
47941773 |
missense variant |
A/T
|
snv
|
1.1E-04
|
1.3E-04
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2010 |
2016 |
rs769266169
|
1.000 |
0.160 |
17 |
47946669 |
missense variant |
C/T
|
snv
|
2.4E-05
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs370243877
|
1.000 |
0.160 |
17 |
47941773 |
missense variant |
A/T
|
snv
|
1.1E-04
|
1.3E-04
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs550423482
|
0.882 |
0.160 |
17 |
47946670 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2014 |
2014 |
rs550423482
|
0.882 |
0.160 |
17 |
47946670 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Status Epilepticus
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs17679445
|
0.925 |
0.160 |
17 |
47944699 |
missense variant |
G/A
|
snv
|
5.5E-02
|
5.0E-02
|
Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs17679445
|
0.925 |
0.160 |
17 |
47944699 |
missense variant |
G/A
|
snv
|
5.5E-02
|
5.0E-02
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs773450573
|
1.000 |
0.160 |
17 |
47946682 |
missense variant |
G/A
|
snv
|
1.2E-05
|
3.5E-05
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2017 |
2017 |