Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906792
rs387906792
AARS1
0.800 GeneticVariation UNIPROT A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). 22009580

2012
dbSNP: rs387906792
rs387906792
AARS1
0.800 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs387906792
rs387906792
AARS1
0.800 GeneticVariation UNIPROT A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102

2010
dbSNP: rs387906792
rs387906792
AARS1
A 0.800 CausalMutation CLINVAR

dbSNP: rs267606621
rs267606621
AARS1
T 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs267606621
rs267606621
AARS1
T 0.700 CausalMutation CLINVAR A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102

2010
dbSNP: rs1555542415
rs1555542415
AARS1
G 0.700 GeneticVariation CLINVAR