Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60261494
rs60261494
NEFL
0.800 GeneticVariation UNIPROT

dbSNP: rs60261494
rs60261494
NEFL
CT 0.800 CausalMutation CLINVAR

dbSNP: rs58982919
rs58982919
NEFL
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs61491953
rs61491953
NEFL
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs58982919
rs58982919
NEFL
0.700 GeneticVariation UNIPROT Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280

2003
dbSNP: rs61491953
rs61491953
NEFL
0.700 GeneticVariation UNIPROT Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280

2003
dbSNP: rs121913663
rs121913663
NEFL
A 0.700 CausalMutation CLINVAR

dbSNP: rs199422214
rs199422214
NEFL
A 0.700 CausalMutation CLINVAR

dbSNP: rs58332872
rs58332872
NEFL
0.700 GeneticVariation UNIPROT