Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894619
rs104894619
PMP22
0.710 GeneticVariation BEFREE It is controversial if peripheral myelin protein 22 gene (PMP22) Thr118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this variant has been found in two patients with Charcot-Marie-Tooth disease type 1 (CMT1 patients), it can act as a recessive CMT1 mutation. 11081809

2000
dbSNP: rs104894619
rs104894619
PMP22
A 0.710 CausalMutation CLINVAR