Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2660753 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 9
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs238406 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
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
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs200182588 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1799950 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 13
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1469713 0.827 0.160 19 19417997 intron variant A/G snv 0.44 7
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24