NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Hereditary Motor and Sensory Neuropathy Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		0.710 GeneticVariation BEFREE NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. 18758688 2008
dbSNP: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		C 0.710 CausalMutation CLINVAR
dbSNP: rs281865140
rs281865140
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		G 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		C 0.700 CausalMutation CLINVAR
dbSNP: rs59101996
rs59101996
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61491953
rs61491953
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		C 0.700 CausalMutation CLINVAR