rs121918205
|
1.000 |
0.080 |
1 |
173857643 |
missense variant |
C/G
|
snv
|
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs121918207
|
1.000 |
0.080 |
1 |
173838207 |
missense variant |
G/A;C
|
snv
|
2.8E-05
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs121918208
|
1.000 |
0.080 |
1 |
173831593 |
missense variant |
G/T
|
snv
|
1.1E-04
|
1.0E-04
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs121918209
|
1.000 |
0.080 |
1 |
173826692 |
missense variant |
A/G
|
snv
|
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs121918210
|
1.000 |
0.080 |
1 |
173833419 |
missense variant |
G/A
|
snv
|
7.2E-05
|
3.5E-05
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs121918212
|
1.000 |
0.080 |
1 |
173857604 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs121918213
|
1.000 |
0.080 |
1 |
173857644 |
missense variant |
T/A
|
snv
|
|
7.0E-06
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2007 |
2014 |
rs1469160736
|
1.000 |
0.080 |
1 |
173833433 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs3791020
|
1.000 |
0.080 |
1 |
173844059 |
intron variant |
G/A
|
snv
|
|
0.21
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs761675657
|
1.000 |
0.080 |
1 |
173857653 |
missense variant |
A/G
|
snv
|
2.0E-05
|
2.1E-05
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs770525873
|
1.000 |
0.080 |
1 |
173856670 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs121918206
|
1.000 |
0.080 |
1 |
173838206 |
stop gained |
C/T
|
snv
|
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918211
|
1.000 |
0.080 |
1 |
173850408 |
stop gained |
G/A;C;T
|
snv
|
4.0E-06;
4.0E-06;
8.0E-06
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Congenital clubfoot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Difficulty walking
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Cerebellar Dysmetria
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Central nervous system demyelination
|
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Foot Deformities
|
Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Sensorimotor neuropathy
|
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Gait imbalance
|
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Impaired vibration sensation in the lower limbs
|
|
0.700 |
|
0 |
|
|
rs142433332
|
0.807 |
0.160 |
1 |
173831632 |
splice donor variant |
T/A;C;G
|
snv
|
8.0E-06;
3.3E-04;
4.0E-06
|
|
Gait Ataxia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|