Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.800 GeneticVariation UNIPROT NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. 26645395

2016
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.800 GeneticVariation UNIPROT NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.800 GeneticVariation UNIPROT The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962

2004
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.800 CausalMutation CLINVAR