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: rs57105105
rs57105105
0.925 0.080 8 24953776 missense variant C/T snv
CUI: C0442874
Disease: Neuropathy
Neuropathy
Nervous System Diseases 0.020 1.000 2 2004 2015
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