Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11368509 | 1.000 | 0.040 | 2 | 158102039 | frameshift variant | -/A | ins | 8.0E-05; 6.3E-02 | 0.10 | 1 | |
rs2307981 | 1.000 | 0.040 | 3 | 12022928 | intron variant | -/ACA | delins | 0.64 | 1 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs56807175 | 1.000 | 0.040 | 2 | 145678654 | intron variant | -/C | ins | 0.16 | 1 | ||
rs869312832 | 1.000 | 0.040 | 16 | 30966051 | frameshift variant | -/C | delins | 1 | |||
rs1135401891 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 7 | |||
rs1799732 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 11 | |||
rs11409090 | 1.000 | 0.040 | 3 | 17846143 | intron variant | -/T | delins | 0.53 | 1 | ||
rs5891007 | 1.000 | 0.040 | 8 | 38163492 | 3 prime UTR variant | -/T | delins | 0.20 | 1 | ||
rs10650434 | 1.000 | 0.040 | 7 | 1985461 | intron variant | -/TC | delins | 0.57 | 1 | ||
rs34269918 | 1.000 | 0.040 | 1 | 8364925 | intron variant | A/- | delins | 0.69 | 1 | ||
rs34685708 | 1.000 | 0.040 | 2 | 161972220 | intron variant | A/- | delins | 0.38 | 1 | ||
rs3840846 | 1.000 | 0.040 | 15 | 73633678 | 5 prime UTR variant | A/- | del | 1.4E-02 | 1 | ||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs146678232 | 1.000 | 0.040 | 7 | 24737471 | intron variant | A/-;AA | delins | 0.15 | 1 | ||
rs5825114 | 1.000 | 0.040 | 18 | 55081986 | intergenic variant | A/-;AA | delins | 1 | |||
rs11439302 | 1.000 | 0.040 | 21 | 14869414 | intron variant | A/-;AA;AAA | delins | 1 | |||
rs139425113 | 1.000 | 0.040 | 8 | 4323090 | intron variant | A/-;AA;AAA | delins | 1 | |||
rs8321 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 16 | |
rs1042173 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 14 | ||
rs17486278 | 0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 | 9 | ||
rs1341239 | 0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 | 8 | ||
rs2239647 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 7 | |
rs9370822 | 0.882 | 0.120 | 6 | 15544505 | intron variant | A/C | snv | 0.36 | 7 | ||
rs2619522 | 0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 | 6 |