Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894621
rs104894621
PMP22
0.020 GeneticVariation BEFREE Mutations associated with axonal CMT were less likely to be classified as deleterious, and the PMP22 S72L mutation repeatedly associated with severe CMT was classified as a polymorphism using default parameters. 19259128

2009
dbSNP: rs104894621
rs104894621
PMP22
0.020 GeneticVariation BEFREE De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease. 15625576

2004