rs73982299, ACACA

N. diseases: 1
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.010 GeneticVariation BEFREE We identified two different de novo missense changes (p.Arg207His and p.Tyr679Cys) in <i>SLC12A6</i> in three unrelated individuals with early-onset progressive CMT. 31439721 2020