Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908834
rs121908834
YARS1
T 0.800 CausalMutation CLINVAR An extended set of yeast-based functional assays accurately identifies human disease mutations. 26975778

2016
dbSNP: rs121908834
rs121908834
YARS1
G 0.800 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs121908834
rs121908834
YARS1
T 0.800 CausalMutation CLINVAR Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. 26138142

2015
dbSNP: rs121908834
rs121908834
YARS1
G 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs121908834
rs121908834
YARS1
T 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs121908834
rs121908834
YARS1
G 0.800 CausalMutation CLINVAR Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. 19561293

2009
dbSNP: rs121908834
rs121908834
YARS1
T 0.800 CausalMutation CLINVAR Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. 19561293

2009
dbSNP: rs121908833
rs121908833
YARS1
0.800 GeneticVariation UNIPROT Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158

2006
dbSNP: rs121908834
rs121908834
YARS1
0.800 GeneticVariation UNIPROT Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158

2006
dbSNP: rs121908834
rs121908834
YARS1
T 0.800 CausalMutation CLINVAR Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158

2006
dbSNP: rs121908834
rs121908834
YARS1
G 0.800 CausalMutation CLINVAR Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. 16429158

2006
dbSNP: rs121908834
rs121908834
YARS1
T 0.800 CausalMutation CLINVAR Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. 14606043

2003
dbSNP: rs121908833
rs121908833
YARS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs786200893
rs786200893
YARS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204003
rs786204003
YARS1
AT 0.700 CausalMutation CLINVAR