Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs9375701 0.827 0.160 6 130062912 intron variant C/T snv 0.53 6
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs80358721 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs28897672 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs137852986 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 13
rs137853011 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
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