Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727505374 | 1.000 | 0.040 | X | 8539744 | stop gained | G/A | snv | 2 | |||
rs186630563 | 1.000 | 0.040 | X | 8699739 | missense variant | C/T | snv | 2.1E-04 | 7.2E-04 | 1 | |
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs1363196459 | 0.882 | 0.040 | 4 | 147486001 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs1224900173 | 1.000 | 0.040 | 4 | 147519933 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs876661330 | 0.882 | 0.160 | 10 | 101771522 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs121909641 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 9 | |||
rs121909628 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;C | snv | 3 | |||
rs515726224 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 3 | |||
rs727505369 | 0.925 | 0.160 | 8 | 38424624 | missense variant | T/C | snv | 3 | |||
rs727505373 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 3 | |||
rs121909640 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 2 | |||
rs727505370 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 2 | |||
rs727505371 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 2 | ||
rs727505376 | 0.925 | 0.160 | 8 | 38414279 | missense variant | C/G;T | snv | 2 | |||
rs781328162 | 0.925 | 0.160 | 8 | 38413714 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 2 | |
rs1064793123 | 1.000 | 0.040 | 8 | 38421859 | missense variant | G/A | snv | 1 | |||
rs727505377 | 1.000 | 0.040 | 8 | 38414001 | missense variant | A/G | snv | 1 | |||
rs104893837 | 0.807 | 0.160 | 4 | 67740682 | missense variant | C/T | snv | 1.8E-03 | 1.3E-03 | 6 | |
rs148499544 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 3 | |
rs104893842 | 0.925 | 0.040 | 4 | 67753920 | missense variant | C/T | snv | 1.4E-04 | 2.1E-04 | 2 | |
rs104893838 | 1.000 | 0.040 | 4 | 67753950 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 1 | ||
rs104893839 | 1.000 | 0.040 | 4 | 67744659 | missense variant | G/T | snv | 1 | |||
rs104893840 | 1.000 | 0.040 | 4 | 67753832 | missense variant | A/T | snv | 1 | |||
rs104893841 | 1.000 | 0.040 | 4 | 67740526 | stop gained | A/T | snv | 1 |