Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553259760
rs1553259760
MPZ
0.020 GeneticVariation BEFREE Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene. 30677751

2018
dbSNP: rs1553259760
rs1553259760
MPZ
0.020 GeneticVariation BEFREE A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. 15036333

2004