Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918205
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
dbSNP: rs121918207
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
dbSNP: rs121918208
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
dbSNP: rs121918209
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
dbSNP: rs121918210
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
dbSNP: rs121918212
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
dbSNP: rs121918213
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
dbSNP: rs142433332
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
dbSNP: rs1469160736
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
dbSNP: rs3791020
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
dbSNP: rs761675657
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
dbSNP: rs770525873
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
dbSNP: rs121918206
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
dbSNP: rs121918211
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
dbSNP: rs142433332
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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs142433332
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: C0311394
Disease: Difficulty walking
Difficulty walking
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs142433332
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: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs142433332
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: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.700 0
dbSNP: rs142433332
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
dbSNP: rs142433332
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: C0016506
Disease: Foot Deformities
Foot Deformities
Musculoskeletal Diseases 0.700 0
dbSNP: rs142433332
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: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.700 0
dbSNP: rs142433332
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
dbSNP: rs142433332
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: C1836150
Disease: Gait imbalance
Gait imbalance
0.700 0
dbSNP: rs142433332
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
dbSNP: rs142433332
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: C0751837
Disease: Gait Ataxia
Gait Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0