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: 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: rs1553200766
rs1553200766
1.000 0.080 1 173825249 stop gained T/A snv
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553201258
rs1553201258
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557853625
rs1557853625
1.000 0.080 1 173828311 non coding transcript exon variant T/A snv
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200670286
rs200670286
1.000 0.080 1 173857592 missense variant C/T snv 8.0E-06 1.4E-05
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs759123043
rs759123043
1.000 0.080 1 173830763 splice donor variant T/C;G snv 2.8E-05
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs772489337
rs772489337
1.000 0.080 1 173837018 missense variant C/A snv 1.2E-05
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0