| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs398123538 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 6 | |
| rs373909351 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 6 | ||
| rs121918244 | 0.882 | 0.200 | 3 | 121781772 | stop gained | G/A | snv | 6.8E-05 | 1.1E-04 | 4 | |
| rs387907009 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 3 | ||
| rs750962965 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 3 | |
| rs745340459 | 0.925 | 0.200 | 3 | 121795542 | frameshift variant | -/AGCA | delins | 5.6E-05 | 6.3E-05 | 2 | |
| rs140630401 | 1.000 | 0.080 | 3 | 121772683 | missense variant | C/T | snv | 1.1E-03 | 1.4E-03 | 1 | |
| rs201405662 | 1.000 | 0.040 | 3 | 121828519 | stop gained | G/A;C | snv | 3.6E-05; 8.0E-06 | 1 | ||
| rs1553722736 | 1.000 | 0.040 | 3 | 121828473 | stop gained | A/C | snv | 1 | |||
| rs866982675 | 1.000 | 0.200 | 3 | 121781790 | stop gained | G/A | snv | 1 | |||
| rs1280238814 | 1.000 | 0.080 | 3 | 121772620 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs727503968 | 1.000 | 0.080 | 3 | 121790112 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 1 | |
| rs767295178 | 3 | 121770503 | frameshift variant | -/TGCCACA | delins | 2.4E-05 | 7.0E-06 | 1 | |||
| rs1553711564 | 3 | 121788283 | splice donor variant | C/T | snv | 1 | |||||
| rs1189889920 | 3 | 121790208 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs1474058708 | 1.000 | 0.200 | 3 | 121797166 | frameshift variant | GTCT/- | delins | 7.0E-06 | 1 | ||
| rs1156803164 | 1.000 | 0.200 | 3 | 121808955 | frameshift variant | GAGA/- | delins | 1 | |||
| rs587783011 | 1.000 | 0.200 | 3 | 121772600 | frameshift variant | -/CT | delins | 8.0E-06 | 1 | ||
| rs786200929 | 1.000 | 0.200 | 3 | 121826111 | frameshift variant | A/- | del | 1 | |||
| rs121918245 | 1.000 | 0.200 | 3 | 121790133 | stop gained | G/A;C | snv | 1 |