RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601372
rs672601372
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		G 0.800 CausalMutation CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880 2017
dbSNP: rs369398935
rs369398935
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.800 GeneticVariation UNIPROT Mutations in RARS cause hypomyelination. 24777941 2014
dbSNP: rs369398935
rs369398935
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		A 0.800 GeneticVariation CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
dbSNP: rs672601372
rs672601372
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		G 0.800 CausalMutation CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
dbSNP: rs672601372
rs672601372
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		0.800 GeneticVariation UNIPROT Mutations in RARS cause hypomyelination. 24777941 2014
dbSNP: rs369398935
rs369398935
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		A 0.800 CausalMutation CLINVAR
dbSNP: rs672601372
rs672601372
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 CausalMutation CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880 2017
dbSNP: rs672601372
rs672601372
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 CausalMutation CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
dbSNP: rs1064792894
rs1064792894
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		C 0.700 CausalMutation CLINVAR
dbSNP: rs139644798
rs139644798
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		T 0.700 CausalMutation CLINVAR
dbSNP: rs672601373
rs672601373
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		T 0.700 CausalMutation CLINVAR
dbSNP: rs672601374
rs672601374
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		C 0.700 CausalMutation CLINVAR
dbSNP: rs672601375
rs672601375
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		G 0.700 CausalMutation CLINVAR
dbSNP: rs769713780
rs769713780
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4015323
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 9 		C 0.700 CausalMutation CLINVAR
dbSNP: rs139644798
rs139644798
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.010 GeneticVariation BEFREE Subsequent screening of a PMD cohort without a genetic diagnosis identified an unrelated individual with novel compound heterozygous variants including a missense variant c.[1367C>T] p.(Ser456Leu) and a de novo deletion c.[1846_1847delTA] p.(Tyr616Leufs*6). 28905880 2017
dbSNP: rs672601372
rs672601372
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C0205711
Disease:
Pelizaeus-Merzbacher Disease 		0.010 GeneticVariation BEFREE Whole-exome sequencing in two siblings presenting with clinical symptoms of PMD revealed a homozygous variant in the arginyl-tRNA synthetase (RARS) gene: NM_002887.3: c.[5A>G] p.(Asp2Gly). 28905880 2017
dbSNP: rs193466
rs193466
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). 24510587 2015
dbSNP: rs193466
rs193466
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30). 24510587 2015