Source: UNIPROT

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: rs587777175
rs587777175
TFG
0.925 0.080 3 100728759 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2013 2019
dbSNP: rs207482230
rs207482230
TFG
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 		0.800 1.000 0 2012 2017
dbSNP: rs376971794
rs376971794
TFG
0.925 0.160 3 100728760 missense variant G/A snv 6.4E-05 3.5E-05
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 0