Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103262
rs119103262
MFN2
T 0.700 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087

2016
dbSNP: rs119103262
rs119103262
MFN2
T 0.700 CausalMutation CLINVAR Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. 24819634

2014
dbSNP: rs119103262
rs119103262
MFN2
T 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. 24126688

2013
dbSNP: rs119103262
rs119103262
MFN2
T 0.700 CausalMutation CLINVAR Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. 17309650

2007
dbSNP: rs119103262
rs119103262
MFN2
T 0.700 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
dbSNP: rs119103262
rs119103262
MFN2
T 0.700 CausalMutation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246

2006