Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397515360 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 8 | ||
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 9 | |
rs62637014 | 0.925 | 0.040 | 17 | 6425781 | stop gained | C/T | snv | 3.3E-04 | 3.8E-04 | 2 | |
rs281865192 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 11 | ||
rs61750130 | 0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 | 6 | |
rs62645748 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 7 | |
rs121908449 | 1.000 | 0.040 | 17 | 65197160 | missense variant | T/C | snv | 1.2E-04 | 1.8E-04 | 2 | |
rs750962965 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 3 | |
rs760391436 | 1.000 | 0.040 | 16 | 84036697 | splice region variant | C/T | snv | 1.6E-05 | 1.4E-04 | 1 | |
rs1191496583 | 1.000 | 0.040 | 1 | 68444607 | missense variant | C/T | snv | 1.6E-05 | 1.3E-04 | 1 | |
rs62638214 | 0.925 | 0.080 | 5 | 178986393 | stop gained | G/A | snv | 1.5E-04 | 1.2E-04 | 2 | |
rs386834261 | 0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 | 5 | ||
rs1429137932 | 1.000 | 0.040 | 1 | 68446713 | missense variant | C/A | snv | 4.8E-05 | 8.4E-05 | 1 | |
rs775796581 | 0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 | 5 | |
rs61752871 | 0.827 | 0.080 | 1 | 68444858 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 3 | |
rs121918165 | 0.925 | 0.040 | 6 | 79493636 | stop gained | G/A | snv | 1.2E-04 | 5.6E-05 | 2 | |
rs386834152 | 0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 | 7 | |
rs142326926 | 1.000 | 0.040 | 17 | 6426615 | missense variant | C/T | snv | 3.2E-05 | 4.9E-05 | 1 | |
rs62636275 | 0.851 | 0.080 | 1 | 197435170 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 3 | |
rs776880045 | 1.000 | 0.040 | 14 | 21312468 | frameshift variant | A/- | delins | 3.5E-05 | 1 | ||
rs116733939 | 0.925 | 0.040 | 14 | 67727056 | missense variant | C/T | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs754768875 | 0.882 | 0.200 | 1 | 216086749 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 3 | |
rs121917745 | 0.851 | 0.080 | 1 | 68429835 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 3 | |
rs539400286 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 9 | |
rs104894673 | 0.776 | 0.160 | 19 | 47839335 | missense variant | C/T | snv | 2.1E-05 | 1 |