Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918205
rs121918205
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918207
rs121918207
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918208
rs121918208
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918209
rs121918209
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918210
rs121918210
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918212
rs121918212
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918213
rs121918213
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.800 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs121918205
rs121918205
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918207
rs121918207
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918208
rs121918208
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918209
rs121918209
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918210
rs121918210
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918212
rs121918212
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918213
rs121918213
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		A 0.800 CausalMutation CLINVAR
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings. 24005482 2014
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings. 24407472 2014
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients. 23652419 2013
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis. 22843165 2012
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Early-onset LBSL: how severe does it get? 23065766 2012
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. 19592391 2010
dbSNP: rs142433332
rs142433332
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		C 0.700 CausalMutation CLINVAR Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs1469160736
rs1469160736
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.700 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs3791020
rs3791020
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASDB Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246 2007
dbSNP: rs761675657
rs761675657
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.700 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007
dbSNP: rs770525873
rs770525873
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
CUI: C1970180
Disease:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 		0.700 GeneticVariation UNIPROT Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. 17384640 2007