DARS1, aspartyl-tRNA synthetase 1, 1615

N. diseases: 40; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147077598
rs147077598
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 GeneticVariation UNIPROT
dbSNP: rs147077598
rs147077598
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs369152939
rs369152939
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs370064817
rs370064817
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587776984
rs587776984
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 GeneticVariation UNIPROT
dbSNP: rs587776984
rs587776984
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587776985
rs587776985
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587776985
rs587776985
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 GeneticVariation UNIPROT
dbSNP: rs886037635
rs886037635
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1060499772
rs1060499772
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs377510027
rs377510027
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C1836830
Disease:
Developmental regression 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs377510027
rs377510027
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0269269
Disease:
Inversion of nipple (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs377510027
rs377510027
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C2677180
Disease:
Congenital microcephaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs377510027
rs377510027
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C1386048
Disease:
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs377510027
rs377510027
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0023520
Disease:
Leukodystrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs377510027
rs377510027
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs527236040
rs527236040
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs967111310
rs967111310
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs149881318
rs149881318
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0200633
Disease:
Neutrophil count (procedure) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs6711493
rs6711493
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0750880
Disease:
Monocyte count result 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs6711493
rs6711493
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0200637
Disease:
Monocyte count procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs75874749
rs75874749
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs145010525
rs145010525
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3894553
Disease:
response to simvastatin 		0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs145010525
rs145010525
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs369152939
rs369152939
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 GeneticVariation UNIPROT Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. 23643384 2013