| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 8 | |||
| rs1565115957 | 1.000 | 0.080 | 11 | 10000952 | frameshift variant | CAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA/- | del | 1 | |||
| rs398122524 | 1.000 | 1 | 100011413 | stop gained | C/T | snv | 1 | ||||
| rs866803539 | 1.000 | 1 | 100015346 | frameshift variant | -/A | delins | 8.0E-06 | 4.2E-05 | 1 | ||
| rs141952252 | 1.000 | 1 | 100017814 | missense variant | A/G | snv | 6.2E-05 | 5.6E-05 | 1 | ||
| rs387906291 | 1.000 | 0.160 | 15 | 100048989 | splice acceptor variant | -/C | delins | 1 | |||
| rs1553916890 | 1.000 | 0.120 | 4 | 1000611 | splice acceptor variant | G/A | snv | 1 | |||
| rs780615798 | 1.000 | 0.120 | 4 | 1000698 | splice donor variant | G/C | snv | 4.0E-06 | 1 | ||
| rs777295041 | 0.925 | 0.120 | 4 | 1000880 | splice acceptor variant | A/G | snv | 3.6E-05 | 1.4E-05 | 2 | |
| rs1560545883 | 1.000 | 0.120 | 4 | 1000884 | frameshift variant | T/- | delins | 1 | |||
| rs1179536678 | 1.000 | 0.080 | 13 | 100089121 | frameshift variant | -/T | delins | 7.0E-06 | 1 | ||
| rs781030239 | 1.000 | 0.080 | 13 | 100089189 | frameshift variant | GCAGCTGATG/- | del | 1 | |||
| rs879253804 | 1.000 | 0.080 | 13 | 100089226 | splice donor variant | G/A | snv | 1 | |||
| rs1553916950 | 1.000 | 0.120 | 4 | 1000983 | stop gained | -/A | delins | 1 | |||
| rs1553916957 | 1.000 | 0.120 | 4 | 1000990 | splice donor variant | G/A | snv | 1 | |||
| rs121434476 | MT | 10010 | non coding transcript exon variant | T/C | snv | 1 | |||||
| rs797045249 | 1.000 | 0.080 | 7 | 100101745 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
| rs1554377262 | 1.000 | 0.080 | 7 | 100101774 | splice donor variant | T/G | snv | 1 | |||
| rs879253809 | 1.000 | 0.080 | 13 | 100102911 | frameshift variant | TA/- | del | 1 | |||
| rs879253812 | 1.000 | 0.080 | 13 | 100102956 | frameshift variant | A/- | delins | 1 | |||
| rs1555342593 | 1.000 | 0.080 | 13 | 100102962 | splice donor variant | T/C | snv | 1 | |||
| rs1554380093 | 7 | 100105098 | missense variant | G/A | snv | 1 | |||||
| rs780030221 | 1.000 | 0.080 | 7 | 100105314 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
| rs776788025 | 1.000 | 0.080 | 7 | 100105450 | frameshift variant | TG/- | delins | 1.2E-05 | 7.0E-06 | 1 | |
| rs369459721 | 1.000 | 0.080 | 7 | 100105526 | stop gained | C/G;T | snv | 4.0E-05 | 1 |