Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906792
rs387906792
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
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
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