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: rs62636503
rs62636503 		0.882 0.080 8 24953779 missense variant C/T snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 15 2000 2016
dbSNP: rs28928910
rs28928910 		0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 1 2011 2011
dbSNP: rs59443585
rs59443585 		0.925 0.080 8 24955521 missense variant T/G snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 2000 2015
dbSNP: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 1.000 4 2004 2016
dbSNP: rs62636503
rs62636503 		0.882 0.080 8 24953779 missense variant C/T snv
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 1.000 4 2004 2016
dbSNP: rs60261494
rs60261494 		0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs267607538
rs267607538 		0.925 0.120 8 24956451 missense variant G/C;T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2008 2008
dbSNP: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 2002 2016
dbSNP: rs587777880
rs587777880 		1.000 0.080 8 24955722 missense variant T/C snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2000 2015
dbSNP: rs587777881
rs587777881 		1.000 0.080 8 24955509 missense variant A/G snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2000 2015
dbSNP: rs587777882
rs587777882 		1.000 0.080 8 24953646 missense variant G/A;C snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2000 2015
dbSNP: rs62636502
rs62636502 		1.000 0.080 8 24955713 missense variant A/C;G snv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 2000 2015
dbSNP: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2003 2004
dbSNP: rs61491953
rs61491953 		0.925 0.080 8 24956493 missense variant G/A;C;T snv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2003 2004
dbSNP: rs121913663
rs121913663 		1.000 0.080 8 24956098 stop gained C/A;T snv 4.2E-06; 4.2E-06
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
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
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
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
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
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
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
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