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
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
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
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
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
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50