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: rs1059111
rs1059111 		0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1059111
rs1059111 		0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059111
rs1059111 		0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1059111
rs1059111 		0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1059111
rs1059111 		0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
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: rs267607538
rs267607538 		0.925 0.120 8 24956451 missense variant G/C;T snv
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
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: rs281865140
rs281865140 		0.925 0.080 8 24955515 missense variant T/C;G 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 2006 2012
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: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
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: 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
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
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: rs2979704
rs2979704 		0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014