Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225025
rs863225025
MPZ
T 0.700 CausalMutation CLINVAR Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations. 24444136

2014
dbSNP: rs863225025
rs863225025
MPZ
T 0.700 CausalMutation CLINVAR Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 24053775

2013