Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 4
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs778031266 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs869025212 0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs80357522 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs80359601 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs3769823 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 4
rs137853214 0.925 0.040 5 87349304 missense variant G/T snv 1
rs137853216 0.925 0.040 5 87349312 missense variant A/G snv 1
rs2151280 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 6
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 17
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs13014235 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 3
rs700635 0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 1
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 3
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 1
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 23
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs11170164 0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 3
rs157935 0.851 0.040 7 130900794 intron variant T/G snv 0.28 4
rs12210050 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 5