rs207482230, TFG

N. diseases: 5
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.
Neuropathy, hereditary motor and sensory, Okinawa type
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
2 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.800 1.000 6 2012 2017
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
3 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.700 1.000 5 2012 2017
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Hereditary Motor and Sensory Neuropathies
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
11 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015