| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1131692183 | 1.000 | 0.120 | 7 | 150948456 | frameshift variant | -/CCTGC | delins | 1 | |||
| rs1131692327 | 1.000 | 0.120 | 7 | 150947632 | frameshift variant | TTCTC/- | delins | 1 | |||
| rs121908850 | 0.925 | 0.120 | 12 | 34026832 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 6 | |||
| rs121912505 | 1.000 | 0.120 | 7 | 150952574 | missense variant | T/C | snv | 1 | |||
| rs121912506 | 0.925 | 0.120 | 7 | 150948984 | missense variant | C/G;T | snv | 2 | |||
| rs121912507 | 0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv | 4 | |||
| rs121912508 | 0.925 | 0.120 | 7 | 150951649 | missense variant | G/A | snv | 2 | |||
| rs121912509 | 1.000 | 0.120 | 7 | 150947477 | stop gained | C/G;T | snv | 5.2E-06 | 1 | ||
| rs121912510 | 0.925 | 0.120 | 7 | 150948995 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
| rs121912511 | 0.925 | 0.120 | 7 | 150974825 | missense variant | T/G | snv | 2 | |||
| rs121912512 | 0.882 | 0.120 | 7 | 150950311 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs121912513 | 1.000 | 0.120 | 7 | 150948866 | missense variant | T/A;C;G | snv | 1 | |||
| rs121912514 | 0.925 | 0.120 | 7 | 150947729 | missense variant | G/A;T | snv | 6.0E-05; 6.0E-06 | 2 | ||
| rs121912515 | 0.925 | 0.120 | 7 | 150974720 | missense variant | G/A;C;T | snv | 2 | |||
| rs121912516 | 0.882 | 0.120 | 7 | 150951721 | missense variant | C/G | snv | 3 | |||
| rs138498207 | 1.000 | 0.120 | 7 | 150950195 | missense variant | G/A | snv | 7.6E-05 | 2.6E-04 | 1 | |
| rs138776684 | 0.925 | 0.120 | 7 | 150957380 | missense variant | G/A | snv | 1.1E-03 | 6.3E-04 | 2 | |
| rs143512106 | 1.000 | 0.120 | 7 | 150948483 | missense variant | G/A;T | snv | 2.2E-04; 8.0E-06 | 1 | ||
| rs149955375 | 1.000 | 0.120 | 7 | 150947623 | missense variant | G/A | snv | 1.3E-04 | 2.2E-04 | 1 | |
| rs1554423863 | 1.000 | 0.120 | 7 | 150947005 | stop gained | G/A | snv | 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 | |||
| rs1554425569 | 1.000 | 0.120 | 7 | 150951114 | missense variant | A/C | snv | 1 | |||
| rs1554426258 | 1.000 | 0.120 | 7 | 150952721 | frameshift variant | T/- | del | 1 |