Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs755669902 | 1.000 | 0.080 | 3 | 48574549 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs760891216 | 1.000 | 0.080 | 3 | 48568819 | missense variant | C/T | snv | 2.1E-05 | 7.0E-06 | 1 | |
| rs767182886 | 1.000 | 0.080 | 3 | 48578320 | splice donor variant | C/T | snv | 1 | |||
| rs767539005 | 1.000 | 0.080 | 3 | 48574262 | splice region variant | C/T | snv | 5.6E-05 | 1 | ||
| rs770304825 | 1.000 | 0.080 | 3 | 48580047 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
| rs1064797082 | 1.000 | 0.080 | 3 | 48581288 | frameshift variant | G/- | delins | 1 | |||
| rs730880286 | 1.000 | 0.080 | 3 | 48586378 | frameshift variant | G/- | delins | 1 | |||
| rs121912854 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 16 | |
| rs121912855 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 16 | |
| rs144023803 | 0.776 | 0.120 | 3 | 48590721 | stop gained | G/A | snv | 3.6E-05 | 2.1E-05 | 9 | |
| rs368007918 | 0.790 | 0.120 | 3 | 48591527 | stop gained | G/A | snv | 8.0E-06 | 7 | ||
| rs761234904 | 0.790 | 0.120 | 3 | 48584754 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 7 | |
| rs1032335328 | 0.925 | 0.080 | 3 | 48579271 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs1368134215 | 0.925 | 0.080 | 3 | 48575673 | stop gained | G/A | snv | 2 | |||
| rs142566193 | 0.925 | 0.080 | 3 | 48566303 | missense variant | G/A | snv | 1.1E-03 | 1.1E-03 | 2 | |
| rs143457874 | 0.925 | 0.080 | 3 | 48565636 | stop gained | G/A | snv | 4.0E-06 | 2.8E-05 | 2 | |
| rs1553612617 | 1.000 | 0.080 | 3 | 48586983 | stop gained | G/A | snv | 2 | |||
| rs121912852 | 1.000 | 0.080 | 3 | 48570304 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs139318843 | 1.000 | 0.080 | 3 | 48568101 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 1 | |
| rs1559423385 | 1.000 | 0.080 | 3 | 48587423 | stop gained | G/A | snv | 1 | |||
| rs1055680335 | 0.925 | 0.080 | 3 | 48575497 | missense variant | G/A;C | snv | 4.1E-06 | 2 | ||
| rs121912849 | 1.000 | 0.080 | 3 | 48575236 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs1203706188 | 0.790 | 0.120 | 3 | 48593554 | stop gained | G/A;T | snv | 7.0E-06 | 7 | ||
| rs121912830 | 1.000 | 0.080 | 3 | 48592613 | stop gained | G/A;T | snv | 7.2E-05 | 1 | ||
| rs1559435706 | 1.000 | 0.080 | 3 | 48591936 | frameshift variant | T/- | del | 2 |