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: 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: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.050 1.000 5 2002 2018
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: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2016 2017
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: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.010 1.000 1 2016 2016
dbSNP: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs58982919
rs58982919 		0.790 0.080 8 24956223 missense variant T/C snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2017 2017
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: 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: 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: 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
dbSNP: rs2979704
rs2979704 		0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2979704
rs2979704 		0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78
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: rs2979704
rs2979704 		0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2979704
rs2979704 		0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78
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: 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