Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799777 | 9 | 104903754 | 5 prime UTR variant | -/C | delins | 0.10 | 1 | ||||
rs55951234 | 22 | 38205423 | 5 prime UTR variant | -/CTC | delins | 2 | |||||
rs111524356 | 2 | 65057022 | intron variant | -/GTGGATGCAGCAG;TGGATGCAGCAG;TGGATGCGGCAG;TGTATGCAGCAG | delins | 0.45 | 2 | ||||
rs142815467 | 19 | 46291277 | intergenic variant | -/T | delins | 0.12 | 3 | ||||
rs2980853 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 16 | ||
rs2740488 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 9 | ||
rs4665710 | 2 | 20998163 | downstream gene variant | A/C | snv | 0.76 | 5 | ||||
rs11216126 | 1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 | 3 | ||
rs2971672 | 7 | 44166307 | intron variant | A/C | snv | 0.44 | 3 | ||||
rs73059723 | 19 | 46293245 | upstream gene variant | A/C | snv | 0.12 | 3 | ||||
rs7519429 | 1 | 172380106 | intron variant | A/C | snv | 0.29 | 2 | ||||
rs10152811 | 15 | 86311359 | intron variant | A/C | snv | 0.28 | 1 | ||||
rs10861661 | 12 | 106780868 | intron variant | A/C | snv | 0.23 | 1 | ||||
rs17058802 | 4 | 172722489 | intron variant | A/C | snv | 0.15 | 1 | ||||
rs1884507 | 20 | 52395625 | intron variant | A/C | snv | 0.11 | 1 | ||||
rs236911 | 11 | 117214554 | non coding transcript exon variant | A/C | snv | 0.15 | 1 | ||||
rs2820441 | 1 | 219561618 | downstream gene variant | A/C | snv | 0.24 | 1 | ||||
rs7203984 | 16 | 56965346 | intron variant | A/C | snv | 0.31 | 1 | ||||
rs8077889 | 17 | 43800798 | downstream gene variant | A/C | snv | 0.19 | 1 | ||||
rs9972882 | 0.925 | 0.080 | 17 | 39651445 | intron variant | A/C | snv | 0.66 | 1 | ||
rs1801689 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 5 | ||||
rs150844304 | 15 | 43434427 | intron variant | A/C;G | snv | 4 | |||||
rs11207995 | 1 | 62583880 | intron variant | A/C;G | snv | 3 | |||||
rs2943646 | 2 | 226234818 | intergenic variant | A/C;G | snv | 3 | |||||
rs1111336 | 2 | 28435029 | regulatory region variant | A/C;G | snv | 2 |