Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs10741657 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs121913412 0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs121913495 0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs12785878 0.677 0.520 11 71456403 intron variant G/A;T snv 25
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs14035
RAN
0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 15
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1800797 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174