Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200182588 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs7937840 0.807 0.200 11 62126500 intron variant C/T snv 0.20 7
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
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
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
rs80358721 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs8037137 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 8
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214