Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 28 | |||
rs4939827 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 25 | |||
rs12953717 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 18 | ||
rs56848936 | 0.776 | 0.080 | 19 | 45818249 | intron variant | A/G | snv | 1.9E-02 | 11 | ||
rs63750206 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 9 | |||
rs768824654 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 6 | ||
rs1057519803 | 0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv | 4 | |||
rs112431538 | 1.000 | 0.120 | 17 | 7673767 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs7987649 | 0.925 | 0.080 | 13 | 28320278 | intron variant | A/G | snv | 0.35 | 4 | ||
rs876660427 | 5 | 112838608 | missense variant | C/T | snv | 4 | |||||
rs587778966 | 0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins | 3 | |||
rs1219568637 | 7 | 55143404 | missense variant | G/A | snv | 7.0E-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 | ||||
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 |