Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs13306698 0.882 0.240 7 95311470 missense variant T/C snv 6.0E-03 1.9E-03 3
rs114216685 1.000 0.120 8 94391640 missense variant T/C snv 8.8E-04 3.9E-04 1
rs2991216
SYK
1.000 0.120 9 90865745 intron variant A/G snv 0.21 1
rs441399 1.000 0.120 15 90822992 regulatory region variant G/A snv 0.50 1
rs758837678 0.925 0.120 8 90001503 missense variant C/T snv 2
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs4934436 1.000 0.120 10 89023563 intergenic variant C/T snv 0.60 1
rs758835365
FAS
1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06 1
rs606231364
FAS
0.925 0.160 10 89003071 missense variant G/A snv 2
rs13178127 1.000 0.120 5 83293613 intron variant A/G snv 3.3E-02 1
rs2682818 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 14
rs161870 0.925 0.160 5 7878079 synonymous variant T/C snv 0.18 0.21 2
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs8094402
MBP
0.882 0.120 18 76995493 intron variant A/G snv 0.25 3
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs1057520001 0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs3813729
C1RL ; C1R
0.925 0.120 12 7089608 missense variant C/G;T snv 2
rs603965 0.732 0.440 11 69648142 splice region variant G/A snv 14
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188