Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202176679
rs202176679
MPZ
0.010 GeneticVariation BEFREE Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c.645+1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non-pathogenic/rare polymorphisms because they are present in healthy relatives. 20456450

2010