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: 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
dbSNP: rs370064817
rs370064817
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
dbSNP: rs886037635
rs886037635
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
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: 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: 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: rs12615624
rs12615624
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs148806569
rs148806569
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C3809008
Disease:
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.700 GeneticVariation UNIPROT Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. 23643384 2013
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