Disease: Amyotrophic Lateral Sclerosis, Familial
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
rs121912443
SOD1
0.732 0.160 21 31663857 missense variant A/G snv 15
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv 11
rs80356733
TARDBP
0.790 0.200 1 11022451 missense variant G/T snv 7
rs762060740
GFAP
0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 6
rs387907264
PFN1
0.851 0.080 17 4946742 missense variant A/C snv 5