Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853325 0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs1057518821 1.000 1 42930671 frameshift variant -/C delins 5
rs869312671 0.882 0.160 1 11144735 missense variant C/T snv 5
rs878853324 0.882 0.160 1 40078579 missense variant A/T snv 5
rs758432471 0.925 1 1806513 missense variant C/T snv 7.0E-06 4
rs869312666 0.925 0.160 1 11129789 missense variant A/C snv 4
rs878853322 0.925 0.160 1 40078573 missense variant G/A snv 4
rs878853323 0.882 0.160 1 40092499 missense variant A/G snv 4
rs1135401733 1.000 0.040 1 244856757 stop gained G/A snv 3
rs730882243 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 3
rs794727870 0.925 0.160 1 42929244 missense variant G/A;T snv 3
rs886041300 1.000 0.160 1 210920032 missense variant C/T snv 3
rs764618040 1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 2
rs786204473 0.925 0.080 1 21573673 missense variant G/A snv 2
rs886041874 1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 2
rs80356726 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 1
rs1553621496 0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs387906686 0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 19
rs1558373252 0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1064795104 0.790 0.440 2 72498492 stop gained A/C snv 17
rs1559193213 0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs672601368 0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs1131692272 0.851 0.240 2 100006808 missense variant C/T snv 8
rs1057519443 0.882 0.200 2 201675255 missense variant A/G snv 7