| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs7987649 | 0.925 | 0.080 | 13 | 28320278 | intron variant | A/G | snv | 0.35 | 4 | ||
| rs876660427 | 5 | 112838608 | missense variant | C/T | snv | 4 | |||||
| rs1219568637 | 7 | 55143404 | missense variant | G/A | snv | 7.0E-06 | 2 | ||||
| rs1288422703 | 5 | 112767386 | missense variant | G/A | snv | 4.0E-06 | 2 | ||||
| rs412396 | 20 | 43657322 | downstream gene variant | C/G | snv | 0.77 | 2 | ||||
| rs4725431 | 7 | 151776093 | intron variant | T/C | snv | 0.19 | 2 | ||||
| rs4771249 | 13 | 28439277 | intron variant | G/A;C | snv | 2 | |||||
| rs6964824 | 7 | 151654146 | intron variant | T/C | snv | 0.31 | 2 | ||||
| rs772468040 | 13 | 28057413 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 2 | ||||
| rs1064793236 | 7 | 5986802 | missense variant | C/T | snv | 7.0E-06 | 1 | ||||
| rs17280262 | 14 | 96587587 | upstream gene variant | C/T | snv | 5.1E-02 | 1 | ||||
| rs1961177 | 15 | 51332881 | intron variant | C/T | snv | 0.21 | 1 | ||||
| rs4812219 | 20 | 60847915 | intergenic variant | C/T | snv | 0.13 | 1 | ||||
| rs587780053 | 7 | 5977698 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 1 | |||
| rs730881913 | 7 | 6004023 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
| rs779512948 | 7 | 5989800 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||||
| rs864622553 | 7 | 5987540 | missense variant | C/G | snv | 1.2E-05 | 1.4E-05 | 1 | |||
| rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
| rs587778966 | 0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins | 3 | |||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 |