Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs527656756 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1057516030 0.807 0.280 21 37480785 stop gained -/A delins 14
rs1057520063 0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1443187318 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 13
rs549625604 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs796051881 0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs386834055 0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs137854521 0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs797044523 0.882 21 37480756 frameshift variant -/A delins 9
rs1559155954 0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs756421370 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs1561898352 0.882 0.200 6 43052582 frameshift variant -/A delins 8
rs1553281318 0.882 0.120 1 226986536 frameshift variant -/A delins 7
rs1085308050 0.827 0.160 10 87933178 frameshift variant -/A delins 7
rs1553403917 0.807 0.320 2 73451171 frameshift variant -/A delins 7
rs1554617582 0.925 0.080 8 115418427 frameshift variant -/A delins 6
rs724159954 21 37490353 frameshift variant -/A delins 6
rs397516059 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 5
rs730881939 0.851 0.200 17 58695008 stop gained -/A delins 5
rs1565942358 0.827 0.200 12 32640442 frameshift variant -/A delins 5
rs1565308384 0.827 0.200 11 61784321 frameshift variant -/A delins 5
rs1554122123 0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1555902810 1.000 22 35781685 frameshift variant -/A delins 4
rs1563406024 0.851 0.240 8 28555799 frameshift variant -/A delins 4