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
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913364 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs28933406 0.667 0.480 11 533875 missense variant G/C;T snv 27
rs10877887 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 18
rs121913407 0.763 0.240 3 41224645 missense variant T/C;G snv 12
rs2229765 0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39 7
rs2066992 0.807 0.200 7 22728630 non coding transcript exon variant G/T snv 9.4E-02 6