| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1560090006 | 3 | 180652246 | frameshift variant | AGTGGCT/- | del | 1 | |||||
| rs1560092160 | 3 | 180659715 | frameshift variant | CT/- | delins | 1 | |||||
| rs1560092440 | 3 | 180660684 | stop gained | A/T | snv | 1 | |||||
| rs201780665 | 3 | 180642072 | stop gained | G/A;T | snv | 7.6E-05; 8.1E-06 | 1 | ||||
| rs577069249 | 3 | 180650140 | intron variant | T/C | snv | 5.0E-04 | 1 | ||||
| rs753580394 | 3 | 180644119 | splice donor variant | C/T | snv | 6.8E-06 | 1 | ||||
| rs756235547 | 3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 | 1 | |||
| rs769223754 | 3 | 180641993 | missense variant | C/A;T | snv | 7.0E-05; 4.3E-06 | 1 | ||||
| rs778577109 | 3 | 180661932 | stop gained | G/A | snv | 5.2E-06 | 7.0E-06 | 1 | |||
| rs780175755 | 3 | 180659759 | frameshift variant | AG/- | delins | 1.6E-05 | 1 | ||||
| rs863224531 | 3 | 180644141 | frameshift variant | A/- | del | 1 | |||||
| rs878855279 | 3 | 180651492 | frameshift variant | TTGT/- | delins | 1 | |||||
| rs878855280 | 3 | 180663913 | frameshift variant | TA/- | delins | 1 | |||||
| rs1560079213 | 3 | 180616697 | splice acceptor variant | T/- | del | 1 | |||||
| rs370706991 | 1.000 | 0.120 | 17 | 80089763 | splice acceptor variant | G/A;T | snv | 4.0E-06; 3.6E-05 | 2 | ||
| rs387907092 | 1.000 | 0.120 | 17 | 80082020 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
| rs397515393 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 2 | |
| rs587778819 | 1.000 | 0.160 | 17 | 80089876 | frameshift variant | -/CTGT;TGT | ins | 3.6E-05 | 2 | ||
| rs754867753 | 1.000 | 0.120 | 17 | 80050085 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 | 2 | |
| rs1060501719 | 17 | 80087748 | frameshift variant | CA/ACCG | delins | 1 | |||||
| rs1346603171 | 17 | 80048762 | splice donor variant | G/A | snv | 4.4E-06 | 1 | ||||
| rs1568667609 | 17 | 80040142 | stop gained | C/T | snv | 1 | |||||
| rs1568709952 | 17 | 80084989 | splice donor variant | G/T | snv | 1 | |||||
| rs371595543 | 17 | 80058646 | stop gained | A/T | snv | 1.6E-05 | 7.0E-06 | 1 | |||
| rs747233125 | 17 | 80086207 | stop gained | C/G;T | snv | 8.8E-06 | 1 |