rs28928910, NEFL

N. diseases: 11
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, AXONAL, TYPE 2E (disorder)
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
16 0.827 0.200 8 24956452 missense variant G/A;T snv 0.810 1.000 1 2011 2011
Charcot-Marie-Tooth disease, Type 1C
CUI: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
9 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Decreased nerve conduction velocity
CUI: C1857640
Disease: Decreased nerve conduction velocity
5 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Hand muscle atrophy
CUI: C0239830
Disease: Hand muscle atrophy
2 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Peripheral demyelination
CUI: C0878575
Disease: Peripheral demyelination
3 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
Peripheral demyelinating neuropathy
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
14 0.827 0.200 8 24956452 missense variant G/A;T snv 0.010 1.000 1 2009 2009