Disease: Hereditary Motor and Sensory Neuropathies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs119483085
NDRG1
0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 5
rs207482230
TFG
0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 5
rs80338934
SH3TC2
0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 4