Gene: NEFL ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928910
rs28928910
NEFL
A 0.810 CausalMutation CLINVAR

dbSNP: rs28928910
rs28928910
NEFL
0.810 GeneticVariation UNIPROT

dbSNP: rs59443585
rs59443585
NEFL ; MIR6841
G 0.800 CausalMutation CLINVAR

dbSNP: rs60261494
rs60261494
NEFL
CT 0.800 CausalMutation CLINVAR

dbSNP: rs60261494
rs60261494
NEFL
0.800 GeneticVariation UNIPROT

dbSNP: rs1411999109
rs1411999109
NEFL ; MIR6841
T 0.700 GeneticVariation CLINVAR

dbSNP: rs191346286
rs191346286
NEFL ; MIR6841
A 0.700 CausalMutation CLINVAR

dbSNP: rs58640772
rs58640772
NEFL
TCTCCACGTAGCGC 0.700 CausalMutation CLINVAR

dbSNP: rs62636505
rs62636505
NEFL
G 0.700 CausalMutation CLINVAR

dbSNP: rs757417962
rs757417962
NEFL ; MIR6841
A 0.700 CausalMutation CLINVAR

dbSNP: rs876661155
rs876661155
NEFL
A 0.700 CausalMutation CLINVAR

dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
dbSNP: rs59443585
rs59443585
NEFL ; MIR6841
0.800 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
dbSNP: rs587777882
rs587777882
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
dbSNP: rs62636502
rs62636502
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs59443585
rs59443585
NEFL ; MIR6841
0.800 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs587777882
rs587777882
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs62636502
rs62636502
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007