TFG, trafficking from ER to golgi regulator, 10342

N. diseases: 104; N. variants: 6
Disease: Neuropathy, hereditary motor and sensory, Okinawa type ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs207482230
rs207482230 		0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Okinawa type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2012 2017
dbSNP: rs587777789
rs587777789 		0.882 0.080 3 100744917 missense variant G/A;T snv 4.0E-06
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Okinawa type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0