| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386833965 | 1.000 | 0.120 | 13 | 77000817 | frameshift variant | TT/- | del | 1 | |||
| rs1057516814 | 1.000 | 0.120 | 13 | 76992171 | frameshift variant | TC/G | delins | 1 | |||
| rs780198002 | 1.000 | 0.120 | 13 | 76992229 | frameshift variant | TC/- | delins | 9.5E-06 | 1 | ||
| rs386833981 | 0.925 | 0.120 | 13 | 77000517 | missense variant | T/G | snv | 3 | |||
| rs386833972 | 1.000 | 0.120 | 13 | 76995939 | stop gained | T/G | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs147065248 | 1.000 | 0.120 | 13 | 76996034 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 1 | |
| rs386833976 | 1.000 | 0.120 | 13 | 76996008 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs386833966 | 0.925 | 0.120 | 13 | 77000824 | frameshift variant | T/- | delins | 2 | |||
| rs1555273992 | 1.000 | 0.120 | 13 | 76995998 | frameshift variant | T/- | delins | 1 | |||
| rs1555274373 | 1.000 | 0.120 | 13 | 77000808 | frameshift variant | T/- | delins | 1 | |||
| rs1555274387 | 1.000 | 0.120 | 13 | 77000883 | frameshift variant | T/- | delins | 1 | |||
| rs1555274343 | 1.000 | 0.120 | 13 | 77000594 | frameshift variant | GT/- | delins | 1 | |||
| rs386833983 | 1.000 | 0.120 | 13 | 77000695 | frameshift variant | GGAAATGAAACATCTG/- | delins | 1 | |||
| rs1555274365 | 1.000 | 0.120 | 13 | 77000729 | frameshift variant | GGAA/- | delins | 1 | |||
| rs1555274312 | 1.000 | 0.120 | 13 | 77000416 | splice acceptor variant | GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- | del | 1 | |||
| rs121908292 | 1.000 | 0.120 | 13 | 77000799 | stop gained | G/T | snv | 1 | |||
| rs764495616 | 1.000 | 0.120 | 13 | 77000685 | stop gained | G/C;T | snv | 1 | |||
| rs202146713 | 1.000 | 0.120 | 13 | 76995233 | splice region variant | G/C | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs386833978 | 1.000 | 0.120 | 13 | 76996035 | missense variant | G/C | snv | 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 | ||
| rs386833968 | 1.000 | 0.120 | 13 | 77000882 | stop gained | G/A;T | snv | 4.3E-06 | 1 | ||
| rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
| rs1555274338 | 1.000 | 0.120 | 13 | 77000567 | stop gained | G/A;C | snv | 2 | |||
| rs764790770 | 1.000 | 0.120 | 13 | 76992175 | stop gained | G/A;C | snv | 2.2E-04 | 2.8E-05 | 1 |