Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs412396 | 20 | 43657322 | downstream gene variant | C/G | snv | 0.77 | 2 | ||||
rs17280262 | 14 | 96587587 | upstream gene variant | C/T | snv | 5.1E-02 | 1 | ||||
rs4812219 | 20 | 60847915 | intergenic variant | C/T | snv | 0.13 | 1 | ||||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
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 | |||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 11 | ||
rs1441008398 | 5 | 112839334 | missense variant | C/T | snv | 4.0E-06 | 4 | ||||
rs876660427 | 5 | 112838608 | missense variant | C/T | snv | 4 | |||||
rs1288422703 | 5 | 112767386 | missense variant | G/A | snv | 4.0E-06 | 2 | ||||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
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 | |||
rs1961177 | 15 | 51332881 | intron variant | C/T | snv | 0.21 | 1 | ||||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs140516819 | 7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 | 4 | |||
rs35918369 | 7 | 55205613 | missense variant | C/T | snv | 3.1E-04 | 3.3E-04 | 4 | |||
rs1219568637 | 7 | 55143404 | missense variant | G/A | snv | 7.0E-06 | 2 | ||||
rs1057519803 | 0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv | 4 | |||
rs7987649 | 0.925 | 0.080 | 13 | 28320278 | intron variant | A/G | snv | 0.35 | 4 | ||
rs4771249 | 13 | 28439277 | intron variant | G/A;C | snv | 2 | |||||
rs772468040 | 13 | 28057413 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 2 | ||||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 |