rs58332872, NEFL

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Charcot-Marie-Tooth disease, demyelinating, Type 1F
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
6 0.882 0.080 8 24956248 missense variant C/T snv 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2017 2017
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2017 2017
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2019 2019