Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
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
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 10
rs1554337974
GARS1
0.882 0.080 7 30609643 missense variant C/T snv 3
rs1060502838
GARS1
0.925 0.080 7 30621448 missense variant A/G snv 2