Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103268
rs119103268
MFN2
T 0.710 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs119103268
rs119103268
MFN2
T 0.710 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs119103268
rs119103268
MFN2
0.710 GeneticVariation BEFREE Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138

2011
dbSNP: rs119103268
rs119103268
MFN2
T 0.710 CausalMutation CLINVAR Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138

2011
dbSNP: rs119103268
rs119103268
MFN2
T 0.710 CausalMutation CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

2008