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
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
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37
rs1143623 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 29
rs2227869 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 9