rs58982919, NEFL

N. diseases: 10
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, DOMINANT INTERMEDIATE G
2 0.790 0.080 8 24956223 missense variant T/C snv 0.800 1.000 4 2004 2016
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
16 0.790 0.080 8 24956223 missense variant T/C snv 0.700 1.000 8 2002 2016
Charcot-Marie-Tooth disease, demyelinating, Type 1F
6 0.790 0.080 8 24956223 missense variant T/C snv 0.700 1.000 2 2003 2004
Hereditary Motor and Sensory Neuropathy Type I
84 0.790 0.080 8 24956223 missense variant T/C snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.790 0.080 8 24956223 missense variant T/C snv 0.050 1.000 5 2002 2018
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.790 0.080 8 24956223 missense variant T/C snv 0.020 1.000 2 2016 2017
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2017 2017
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2017 2017
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2018 2018
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2016 2016