Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10090154 0.807 0.160 8 127519892 intergenic variant T/A;C snv 7
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs10896449 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 7
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs2410373 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 6
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 20
rs9325782 0.851 0.120 8 16232964 intron variant C/T snv 0.87 6
rs142600685 0.851 0.120 7 87549940 missense variant G/A snv 3.5E-04 4.4E-04 4
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs1800682 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 32
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs3730358 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 14
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
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
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 11
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs8173 0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv 9
rs2240308 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18