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: rs60261494
rs60261494
NEFL
0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.800 0
dbSNP: rs60261494
rs60261494
NEFL
0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.800 0
dbSNP: rs60261494
rs60261494
NEFL
0.882 0.080 8 24956493 missense variant GG/CT mnv
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.700 0