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
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
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
0.800 1.000 4 2004 2016
dbSNP: rs58332872
rs58332872
0.882 0.080 8 24956248 missense variant C/T 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: 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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.010 1.000 1 2017 2017
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: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy
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: 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: 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: 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: rs62636503
rs62636503
0.882 0.080 8 24953779 missense variant C/T snv
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: rs58982919
rs58982919
0.790 0.080 8 24956223 missense variant T/C snv
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
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
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
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: rs59443585
rs59443585
0.925 0.080 8 24955521 missense variant T/G snv
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: rs62636502
rs62636502
1.000 0.080 8 24955713 missense variant A/C;G snv
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: 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: 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: rs57105105
rs57105105
0.925 0.080 8 24953776 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 2004 2015
dbSNP: rs58982919
rs58982919
0.790 0.080 8 24956223 missense variant T/C snv
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: rs59443585
rs59443585
0.925 0.080 8 24955521 missense variant T/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: rs61491953
rs61491953
0.925 0.080 8 24956493 missense variant G/A;C;T snv
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2003 2004