Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3025058 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs3836790 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 5
rs34717272 1 192810962 intron variant TC/CT mnv 1
rs1275805226
AGT
0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 12
rs36217263
KL
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21 4
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs28363170 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs146052672 0.851 0.160 6 34242693 intron variant -/C delins 5
rs146021107 13 27920030 5 prime UTR variant G/- delins 0.22 1
rs35530071 17 7659807 downstream gene variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTTT delins 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 264
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 201
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 181
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 169
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 153
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140