Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs748369265 2 178601788 splice acceptor variant C/T snv 9.3E-05 1.4E-05 1
rs779996703 2 178567141 stop gained G/A;T snv 8.9E-05 1
rs557312035 0.925 0.160 2 178564811 stop gained G/A;C;T snv 8.1E-06 3
rs730880365 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 3
rs58596362 0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06 4
rs869312081 2 178552997 frameshift variant ATTA/- delins 8.1E-06 1
rs727504589 2 178620714 splice donor variant C/A;T snv 8.1E-06; 4.0E-06 1
rs764243269 2 178587708 stop gained G/A;T snv 8.1E-06; 4.0E-06 1
rs770767998 2 178629441 stop gained G/A;C;T snv 8.1E-06 1
rs140743001 1.000 0.040 2 178630250 stop gained G/A snv 8.1E-06 1.4E-05 2
rs768079285 1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 2
rs727505284 0.925 0.160 2 178565416 stop gained G/A snv 8.0E-06 1.4E-05 3
rs766265889 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs869312085 2 178539559 stop gained G/A snv 8.0E-06 1
rs397515939 11 47339758 missense variant G/A;C snv 8.0E-06 1
rs758537946 18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 1
rs756433029 2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05 1
rs397516943
DSP
0.882 0.120 6 7559281 stop gained C/G;T snv 8.0E-06 4
rs137854618 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 5
rs387906875 0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 3
rs397517906 0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 3
rs397516142 1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 3
rs760187215 1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 6
rs730881097 1 201363352 missense variant C/A snv 8.0E-06 2.1E-05 1
rs72646846 0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 4