Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1361241029
PBK
1.000 0.120 8 27828154 start lost T/C snv 2.1E-05 1
rs1057519996 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 19
rs866775781 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs587778883 0.807 0.200 3 37025648 frameshift variant A/- del 7
rs876658923 1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 3
rs587782703 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs17107315 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs28934575 0.641 0.400 17 7674230 missense variant C/A;G;T snv 37