Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752908306 15 28272372 missense variant G/A;C snv 8.0E-06 1
rs786202676 22 28696956 missense variant T/A;G snv 1
rs886037788 17 43091461 frameshift variant -/TCAA ins 1
rs886037789 17 43071159 frameshift variant T/- del 1
rs886037797 13 32332667 frameshift variant AACTAACC/- delins 1
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs121909224 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121912664 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 7
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1