Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28928910
rs28928910
NEFL
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) 		0.810 1.000 0 2011 2011
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
Charcot-Marie-Tooth disease, Type 1C 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
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
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
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
NEFL
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 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		0.700 0