Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs200182588 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs137852986 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 13
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs137853011 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs11571833 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799950 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 13
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs8037137 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 8
rs7937840 0.807 0.200 11 62126500 intron variant C/T snv 0.20 7
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs5013329 0.827 0.160 1 46349419 intron variant C/T snv 0.23 6
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63