| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1375421660 | 1.000 | 0.080 | 14 | 45188848 | frameshift variant | AT/- | del | 4.0E-06 | 1 | ||
| rs1050717570 | 1.000 | 0.080 | 13 | 48381393 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
| rs1060503074 | 1.000 | 0.080 | 13 | 48373494 | splice donor variant | T/G | snv | 1 | |||
| rs1060503077 | 1.000 | 0.080 | 13 | 48367521 | stop gained | G/T | snv | 1 | |||
| rs1060503087 | 1.000 | 0.080 | 13 | 48379651 | splice donor variant | G/T | snv | 1 | |||
| rs1258442224 | 1.000 | 0.080 | 13 | 48381245 | splice acceptor variant | A/C;T | snv | 8.6E-06 | 1 | ||
| rs1461382798 | 1.000 | 0.080 | 13 | 48380164 | splice acceptor variant | G/A;T | snv | 1 | |||
| rs1555286220 | 1.000 | 0.080 | 13 | 48376940 | frameshift variant | AA/- | delins | 1 | |||
| rs1555286250 | 1.000 | 0.080 | 13 | 48377034 | missense variant | G/C | snv | 1 | |||
| rs1555286611 | 1.000 | 0.080 | 13 | 48380201 | frameshift variant | A/- | del | 1 | |||
| rs1555286695 | 1.000 | 0.080 | 13 | 48381381 | frameshift variant | GAAATGAT/- | del | 1 | |||
| rs1555286707 | 1.000 | 0.080 | 13 | 48381420 | frameshift variant | -/TG | delins | 1 | |||
| rs1566194323 | 1.000 | 0.080 | 13 | 48367502 | frameshift variant | TTCT/- | delins | 1 | |||
| rs1566194415 | 1.000 | 0.080 | 13 | 48367606 | splice region variant | A/G | snv | 1 | |||
| rs1566196458 | 1.000 | 0.080 | 13 | 48373460 | stop gained | C/T | snv | 1 | |||
| rs1566197747 | 1.000 | 0.080 | 13 | 48376996 | stop gained | A/T | snv | 1 | |||
| rs1566199059 | 1.000 | 0.080 | 13 | 48380185 | frameshift variant | TT/- | delins | 1 | |||
| rs1566199125 | 1.000 | 0.080 | 13 | 48380246 | splice region variant | G/A | snv | 1 | |||
| rs587778828 | 1.000 | 0.080 | 13 | 48364911 | frameshift variant | -/A | delins | 1 | |||
| rs587778830 | 1.000 | 0.080 | 13 | 48373422 | frameshift variant | -/C | delins | 1 | |||
| rs587778831 | 1.000 | 0.080 | 13 | 48376917 | splice acceptor variant | G/A | snv | 1 | |||
| rs587778832 | 1.000 | 0.080 | 13 | 48380198 | frameshift variant | TT/- | delins | 1 | |||
| rs587778843 | 1.000 | 0.080 | 13 | 48364969 | stop gained | G/T | snv | 1 | |||
| rs587778845 | 1.000 | 0.080 | 13 | 48373443 | stop gained | T/A | snv | 1 | |||
| rs587778846 | 1.000 | 0.080 | 13 | 48377035 | splice donor variant | G/A;T | snv | 1 |