NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913663
rs121913663
1.000 0.080 8 24956098 stop gained C/A;T snv 4.2E-06; 4.2E-06
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1411999109
rs1411999109
1.000 0.080 8 24955720 missense variant C/T snv 4.0E-06
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs191346286
rs191346286
1.000 0.080 8 24953704 stop gained G/A;T snv 4.4E-05
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199422214
rs199422214
1.000 0.080 8 24955888 stop gained C/A;G snv 1.7E-05
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs281865140
rs281865140
0.925 0.080 8 24955515 missense variant T/C;G snv
Hereditary Motor and Sensory Neuropathy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
Nervous System Diseases 0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
Hereditary Motor and Sensory Neuropathy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
Nervous System Diseases 0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy
0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs28928910
rs28928910
0.827 0.200 8 24956452 missense variant G/A;T snv
Charcot-Marie-Tooth disease, Type 1C
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs58332872
rs58332872
0.882 0.080 8 24956248 missense variant C/T snv
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs58640772
rs58640772
1.000 0.080 8 24956455 frameshift variant -/TCCACGTAGCGCC delins
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs58982919
rs58982919
0.790 0.080 8 24956223 missense variant T/C snv
Hereditary Motor and Sensory Neuropathy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs59101996
rs59101996
0.925 0.080 8 24956070 missense variant G/A snv
Hereditary Motor and Sensory Neuropathy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs60261494
rs60261494
0.882 0.080 8 24956493 missense variant GG/CT mnv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs60261494
rs60261494
0.882 0.080 8 24956493 missense variant GG/CT mnv
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs60261494
rs60261494
0.882 0.080 8 24956493 missense variant GG/CT mnv
Charcot-Marie-Tooth disease, Type 2B1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs61491953
rs61491953
0.925 0.080 8 24956493 missense variant G/A;C;T snv
Hereditary Motor and Sensory Neuropathy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs62636505
rs62636505
0.925 0.080 8 24956235 missense variant A/G snv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs757417962
rs757417962
1.000 0.080 8 24954233 stop gained G/A;C snv 2.0E-05 7.0E-06
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs876661155
rs876661155
1.000 0.080 8 24956029 stop gained C/A;G snv
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0