| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554426258 | 1.000 | 0.120 | 7 | 150952721 | frameshift variant | T/- | del | 1 | |||
| rs794728455 | 0.882 | 0.120 | 7 | 150947796 | frameshift variant | C/-;CC | delins | 2.4E-05 | 3 | ||
| rs761863251 | 0.925 | 0.120 | 7 | 150959591 | frameshift variant | G/-;GG | delins | 2 | |||
| rs1131692183 | 1.000 | 0.120 | 7 | 150948456 | frameshift variant | -/CCTGC | delins | 1 | |||
| rs1131692327 | 1.000 | 0.120 | 7 | 150947632 | frameshift variant | TTCTC/- | delins | 1 | |||
| rs1554424099 | 1.000 | 0.120 | 7 | 150947389 | stop gained | -/GGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCAC | delins | 1 | |||
| rs1554425498 | 1.000 | 0.120 | 7 | 150951028 | frameshift variant | C/- | delins | 1 | |||
| rs1563148264 | 1.000 | 0.120 | 7 | 150947866 | frameshift variant | G/- | delins | 1 | |||
| rs730880374 | 1.000 | 0.120 | 7 | 150958132 | frameshift variant | -/C | delins | 1 | |||
| rs794728438 | 1.000 | 0.120 | 7 | 150952458 | inframe deletion | AGGGGATGGCGGCCACCATGTCGATGA/- | delins | 1 | |||
| rs794728446 | 1.000 | 0.120 | 7 | 150948992 | frameshift variant | T/- | delins | 1 | |||
| rs794728496 | 1.000 | 0.120 | 7 | 150958297 | frameshift variant | C/- | delins | 1 | |||
| rs869025447 | 1.000 | 0.120 | 7 | 150958200 | frameshift variant | -/G | delins | 1 | |||
| rs869025448 | 1.000 | 0.120 | 7 | 150952579 | frameshift variant | -/G | delins | 1 | |||
| rs1805127 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 17 | |
| rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 10 | ||
| rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 6 | |||
| rs199472910 | 0.827 | 0.120 | 7 | 150952508 | missense variant | G/A | snv | 1.2E-05 | 5 | ||
| rs199472921 | 0.882 | 0.120 | 7 | 150951712 | missense variant | C/G;T | snv | 5 | |||
| rs199472936 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 5 | |||
| rs28928905 | 0.851 | 0.120 | 7 | 150952514 | missense variant | C/G;T | snv | 5 | |||
| rs121912507 | 0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv | 4 | |||
| rs1554430943 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 4 | |||
| rs199473039 | 0.851 | 0.120 | 7 | 150951512 | missense variant | G/A;C;T | snv | 9.5E-05 | 4 | ||
| rs199473428 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 4 |