Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4444235 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 23 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
rs961253 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 15 | ||
rs143969848 | 0.925 | 0.160 | 3 | 36958902 | TF binding site variant | G/A | snv | 9.8E-03 | 4 | ||
rs587780059 | 0.882 | 0.200 | 7 | 6009018 | start lost | A/C;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 5 | ||
rs1554308880 | 1.000 | 0.160 | 7 | 6008969 | intron variant | CACCGGAA/- | delins | 1 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs1380087059 | 0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 | 3 | ||
rs587781394 | 0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 3 | ||
rs758712508 | 0.925 | 0.160 | 5 | 112838286 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs3802842 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 25 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs863224453 | 1.000 | 0.160 | 2 | 47385165 | splice acceptor variant | G/A | snv | 1 | |||
rs63751012 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 5 | |||
rs63750648 | 0.882 | 0.160 | 3 | 36993602 | missense variant | A/T | snv | 4 | |||
rs63750792 | 0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv | 4 | |||
rs72481822 | 0.925 | 0.160 | 3 | 36993550 | start lost | G/A;T | snv | 4 | |||
rs121912965 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 3 | |||
rs267607706 | 0.882 | 0.160 | 3 | 36993661 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs267607709 | 0.925 | 0.160 | 3 | 36993664 | splice donor variant | G/A;T | snv | 3 |