Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs200182588 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 6
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs28897672 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs1469713 0.827 0.160 19 19417997 intron variant A/G snv 0.44 7
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs11571833 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 23
rs80358721 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37