Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs74315329 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 15
rs746540053 1.000 0.040 1 207911034 missense variant C/T snv 2
rs201137953 2 162039019 missense variant T/A;C snv 4.0E-06 1
rs352140 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 42
rs1015164 0.925 3 46410189 intron variant A/C;G;T snv 8
rs778036161 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 9
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs1555119899 0.925 0.240 11 108326149 missense variant G/C snv 7
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs1336343565 11 36592848 missense variant G/T snv 7.0E-06 1
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs2227513 1.000 0.080 12 68253559 intron variant T/C snv 0.15 3
rs1555257073 0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs28931594 0.790 0.280 13 20189434 missense variant C/A;T snv 9
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs3218716 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
rs2204985 14 22448641 intron variant G/A snv 0.52 1
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs1131691021 0.716 0.120 17 7675097 missense variant A/C;G snv 21
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs28399499 0.827 0.280 19 41012316 missense variant T/C snv 5.1E-03 2.2E-02 6
rs3211371 0.827 0.080 19 41016810 missense variant C/A;T snv 1.2E-04; 8.8E-02 6
rs61732239
ADA
1.000 0.120 20 44625622 missense variant C/G;T snv 1.0E-03 2
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58