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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2015 2017
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: 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: rs57105105
rs57105105 		0.925 0.080 8 24953776 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 0.010 1.000 1 2011 2011
dbSNP: rs58332872
rs58332872 		0.882 0.080 8 24956248 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs59101996
rs59101996 		0.925 0.080 8 24956070 missense variant G/A snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs62636505
rs62636505 		0.925 0.080 8 24956235 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs62636522
rs62636522 		1.000 0.080 8 24955877 missense variant G/A;C snv 4.1E-06; 7.2E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2006 2006
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: 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: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
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
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: rs58640772
rs58640772 		1.000 0.080 8 24956455 frameshift variant -/TCCACGTAGCGCC delins
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: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C 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: rs59101996
rs59101996 		0.925 0.080 8 24956070 missense variant G/A 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: 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: rs60261494
rs60261494 		0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
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
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: rs62636505
rs62636505 		0.925 0.080 8 24956235 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 0
dbSNP: rs757417962
rs757417962 		1.000 0.080 8 24954233 stop gained G/A;C snv 2.0E-05 7.0E-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