| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121434470 | 1.000 | 0.080 | MT | 4300 | non coding transcript exon variant | A/G | snv | 1 | |||
| rs1554401561 | 1.000 | 0.080 | 7 | 128855243 | missense variant | G/C | snv | 1 | |||
| rs587782951 | 0.807 | 0.080 | 20 | 44160305 | missense variant | G/T | snv | 1 | |||
| rs199472948 | 1.000 | 0.080 | 7 | 150951531 | missense variant | C/T | snv | 1 | |||
| rs879254614 | 0.925 | 0.120 | 19 | 11105555 | frameshift variant | -/T | ins | 1 | |||
| rs56851164 | 1.000 | 0.080 | 1 | 156135940 | missense variant | T/A | snv | 5.6E-05 | 8.4E-05 | 1 | |
| rs193922681 | 1.000 | 0.080 | 15 | 34794742 | missense variant | A/G | snv | 1 | |||
| rs1555336467 | 1.000 | 0.080 | 14 | 23416211 | inframe deletion | CTC/- | delins | 1 | |||
| rs727504385 | 1.000 | 0.080 | 14 | 23415210 | missense variant | T/C | snv | 1 | |||
| rs730880781 | 1.000 | 0.080 | 14 | 23419949 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
| rs1025692267 | 1.000 | 0.080 | 11 | 47343342 | intron variant | C/T | snv | 5.6E-05 | 1 | ||
| rs1060501475 | 1.000 | 0.080 | 11 | 47333647 | frameshift variant | C/- | delins | 1 | |||
| rs1299079662 | 1.000 | 0.080 | 11 | 47332564 | splice donor variant | A/G;T | snv | 4.0E-06 | 1 | ||
| rs1555123743 | 1.000 | 0.080 | 11 | 47351310 | frameshift variant | G/AA | delins | 1 | |||
| rs1565622952 | 1.000 | 0.080 | 11 | 47332947 | stop gained | G/T | snv | 1 | |||
| rs1565624090 | 1.000 | 0.080 | 11 | 47335078 | frameshift variant | -/A | delins | 1 | |||
| rs1565625473 | 1.000 | 0.080 | 11 | 47337725 | frameshift variant | -/C | delins | 1 | |||
| rs1565625777 | 1.000 | 0.080 | 11 | 47338519 | frameshift variant | -/CGAT | delins | 1 | |||
| rs1565626409 | 1.000 | 0.080 | 11 | 47339714 | frameshift variant | -/C | delins | 1 | |||
| rs1565627536 | 1.000 | 0.080 | 11 | 47342051 | frameshift variant | AC/- | delins | 1 | |||
| rs1565627566 | 1.000 | 0.080 | 11 | 47342083 | stop gained | ACATTTGAACACCGC/CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG | delins | 1 | |||
| rs1565628062 | 1.000 | 0.080 | 11 | 47342865 | frameshift variant | C/- | del | 1 | |||
| rs1565628486 | 1.000 | 0.080 | 11 | 47343541 | frameshift variant | C/- | del | 1 | |||
| rs1565631428 | 1.000 | 0.080 | 11 | 47350598 | frameshift variant | G/- | del | 1 | |||
| rs199728019 | 1.000 | 0.080 | 11 | 47341995 | missense variant | C/T | snv | 1.2E-04 | 7.0E-05 | 1 |