Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1801200 0.790 0.200 17 39723335 missense variant A/G;T snv 7
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs3803662 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs4648068 0.790 0.240 4 102597148 intron variant A/G snv 0.31 9
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs6917
PHB
0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16 7
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72