Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs351771
APC
0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 3
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs74315464 0.882 0.120 22 50627048 missense variant G/A;C snv 4
rs751039340 0.882 0.120 22 50625459 missense variant C/A snv 4.2E-06 3
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs869312756
ATM
0.925 0.320 11 108307985 splice donor variant G/A;T snv 3
rs732774 0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56 5
rs1801243 0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05 4
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2240308 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs3923087 0.827 0.160 17 65553143 intron variant T/C snv 0.58 5
rs8170 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 13
rs28997576 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs2153271 0.925 0.160 9 16864523 intron variant C/T snv 0.43 3
rs367899983 1.000 0.120 9 16864524 intron variant GTCT/- delins 4.2E-05 2
rs10756819 1.000 0.120 9 16858086 intron variant G/A;C;T snv 1
rs12379183 1.000 0.120 9 16865701 intron variant A/G snv 0.26 1
rs12379687 1.000 0.120 9 16854369 intron variant G/A;T snv 1
rs1339552 1.000 0.120 9 16848792 intron variant C/T snv 0.52 1
rs1416742 1.000 0.120 9 16856885 intron variant G/A snv 0.43 1
rs4961501 1.000 0.120 9 16851680 intron variant T/A;C;G snv 1