Disease: Sensorimotor neuropathy
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 13
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 10
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 9