Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63750875 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 15
rs63749993 0.882 0.200 2 47476424 missense variant T/G snv 8
rs1114167806 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs63751108 0.827 0.240 2 47429881 stop gained C/T snv 7
rs267607940 0.851 0.240 2 47416430 splice donor variant G/A;T snv 6
rs587779157 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs63749849 0.851 0.240 2 47429812 stop gained C/T snv 6
rs63750042 0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 6
rs63750508 0.851 0.240 2 47475126 stop gained C/G;T snv 6
rs63750624 0.925 0.160 2 47410211 missense variant G/A snv 6
rs63750636 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs63751207 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 6
rs587779067 0.882 0.200 2 47416399 missense variant C/G;T snv 5
rs587779075 0.882 0.200 2 47429830 stop gained C/T snv 5
rs587779190 0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 5
rs63749932 0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 5
rs63750086 0.882 0.200 2 47429891 frameshift variant AG/- del 5
rs63750398 0.925 0.160 2 47476451 missense variant G/A;T snv 5
rs63750934 0.882 0.160 2 47414368 stop gained C/T snv 5
rs193922376 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 4
rs267607943 0.925 0.160 2 47429740 splice acceptor variant A/C;G;T snv 4
rs267607953 0.925 0.160 2 47429943 splice donor variant T/A;C snv 4.0E-06 4
rs267607969 0.925 0.160 2 47466809 splice donor variant G/A;T snv 4
rs28929483 0.925 0.160 2 47475130 missense variant C/A;G;T snv 4
rs587779139 0.925 0.160 2 47476513 stop gained C/G;T snv 4