rs60261494, NEFL

N. diseases: 3
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 0.882 0.080 8 24956493 missense variant GG/CT mnv 0.800 0
Charcot-Marie-Tooth disease, demyelinating, Type 1F
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
6 0.882 0.080 8 24956493 missense variant GG/CT mnv 0.800 0
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
6 0.882 0.080 8 24956493 missense variant GG/CT mnv 0.700 0