Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17007695 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 4
rs4748793 0.851 0.120 10 22194082 intergenic variant A/G snv 0.18 4
rs7789635 0.882 0.120 7 50405912 downstream gene variant T/C snv 0.40 4
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs979090956 0.827 0.200 7 87553822 missense variant G/C snv 5
rs200378616 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 3
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs1966862 0.790 0.120 4 85766908 intron variant A/G snv 0.14 8
rs10821936 0.742 0.200 10 61963818 intron variant C/T snv 0.69 11
rs7089424 0.752 0.200 10 61992400 intron variant T/G snv 0.32 10
rs10994982 0.790 0.120 10 61950345 intron variant A/G snv 0.49 7
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins 5
rs1169704167
ATM
0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 3
rs3733890 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 16
rs35134728 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 3
rs3737966 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 3
rs2043211 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv 4
rs3731249 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs3731217 0.763 0.320 9 21984662 intron variant A/C;T snv 10
rs3731246 0.882 0.120 9 21971990 intron variant C/G snv 0.11 3
rs564398 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 18
rs2239633 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 12
rs12434881 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 3
rs200928781 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11