Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs1555475794
JMJD8 ; STUB1
0.925 0.120 16 682729 3 prime UTR variant T/C snv 7
rs1445287184
LOC105369867 ; PTPRQ
1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 7