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: rs121918206
rs121918206 		1.000 0.080 1 173838206 stop gained C/T snv
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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
CUI: C0338474
Disease: Central nervous system demyelination
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
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
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
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: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		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: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		0.700 0
dbSNP: rs1553200766
rs1553200766 		1.000 0.080 1 173825249 stop gained T/A snv
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553201258
rs1553201258 		0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0