| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555273567 | 1.000 | 0.120 | 13 | 76992116 | frameshift variant | C/- | del | 1 | |||
| rs1057516814 | 1.000 | 0.120 | 13 | 76992171 | frameshift variant | TC/G | delins | 1 | |||
| rs764790770 | 1.000 | 0.120 | 13 | 76992175 | stop gained | G/A;C | snv | 2.2E-04 | 2.8E-05 | 1 | |
| rs104894385 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 2 | ||
| rs200348035 | 1.000 | 0.120 | 13 | 76992182 | stop gained | G/A;T | snv | 4.5E-06 | 1 | ||
| rs1555273609 | 1.000 | 0.120 | 13 | 76992215 | frameshift variant | G/- | delins | 1 | |||
| rs780198002 | 1.000 | 0.120 | 13 | 76992229 | frameshift variant | TC/- | delins | 9.5E-06 | 1 | ||
| rs386833970 | 1.000 | 0.120 | 13 | 76992238 | frameshift variant | -/C | delins | 1 | |||
| rs1057517134 | 1.000 | 0.120 | 13 | 76992250 | frameshift variant | ACTGGCCGGTGCC/- | delins | 1 | |||
| rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
| rs1555273882 | 1.000 | 0.120 | 13 | 76995079 | frameshift variant | C/- | delins | 1 | |||
| rs267606738 | 1.000 | 0.120 | 13 | 76995119 | missense variant | G/A | snv | 1 | |||
| rs386833971 | 1.000 | 0.120 | 13 | 76995175 | stop gained | C/T | snv | 2.4E-05 | 1 | ||
| rs202146713 | 1.000 | 0.120 | 13 | 76995233 | splice region variant | G/C | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs1057516390 | 1.000 | 0.120 | 13 | 76995901 | splice acceptor variant | G/- | del | 1 | |||
| rs386833972 | 1.000 | 0.120 | 13 | 76995939 | stop gained | T/G | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs386833973 | 1.000 | 0.120 | 13 | 76995942 | frameshift variant | -/A | ins | 1 | |||
| rs386833974 | 1.000 | 0.120 | 13 | 76995980 | stop gained | C/T | snv | 1 | |||
| rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
| rs1566219136 | 1.000 | 0.120 | 13 | 76995993 | missense variant | G/A | snv | 1 | |||
| rs1555273992 | 1.000 | 0.120 | 13 | 76995998 | frameshift variant | T/- | delins | 1 | |||
| rs386833976 | 1.000 | 0.120 | 13 | 76996008 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs546989392 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 2 | |
| rs386833977 | 1.000 | 0.120 | 13 | 76996028 | missense variant | C/T | snv | 1 | |||
| rs147065248 | 1.000 | 0.120 | 13 | 76996034 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 1 |