Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607581 0.925 0.080 1 156137651 splice region variant C/G snv 4
rs28933091 0.882 0.160 1 156134474 missense variant C/A;G snv 4
rs397516089 0.827 0.080 14 23429807 missense variant C/G;T snv 4
rs397516165 0.925 0.080 14 23424118 missense variant C/G;T snv 4
rs397516373 0.925 0.080 15 63059663 missense variant G/A snv 4
rs397516471 0.882 0.080 1 201363348 missense variant C/T snv 4
rs397516706 0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 4
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 4
rs45578238 0.882 0.080 1 201361971 inframe deletion CTT/- delins 4
rs58596362 0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06 4
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs72648250 0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 4
rs727503512 0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06 4
rs727503607 0.882 0.160 2 178605642 stop gained C/A snv 4
rs727505319 0.925 0.160 2 178542263 splice donor variant C/G;T snv 4.2E-06 4
rs74315380 0.851 0.080 1 201364366 missense variant G/A;C snv 4
rs869248137 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 4
rs111033559 0.925 0.040 6 118558946 missense variant C/T snv 3
rs112188483 0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05 3
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv 3
rs121913627 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 3
rs121913630 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 3
rs121913642 0.925 0.080 14 23427879 missense variant A/G snv 3
rs121913647 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 3
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3