Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1800796 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs712 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24