rs58982919, NEFL

N. diseases: 4
Source: CURATED ×
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
CUI: C4693509
Disease: 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)
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
15 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
CUI: C1843164
Disease: 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
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.790 0.080 8 24956223 missense variant T/C snv 0.700 0