Disease: Motor Neuron Disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs1475170339
IGFALS ; SPSB3
0.732 0.240 16 1792325 missense variant T/C;G snv 18
rs80265967
SOD1
0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 16
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs74315431
VAPB
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15
rs80356726
TARDBP
0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 12
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv 11
rs121912436
SOD1
0.827 0.080 21 31667274 missense variant G/A;C snv 7
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 7
rs762060740
GFAP
0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 6
rs121912437
SOD1
0.851 0.080 21 31667298 missense variant G/A;C;T snv 5
rs121912439
SOD1
0.851 0.080 21 31667320 missense variant A/G snv 4
rs1239669755
IQCG ; LMLN
0.851 0.080 3 197960384 missense variant C/T snv 4