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 | 213 | |||
rs1135401891 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 6 | |||
rs1799732 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 11 | |||
rs3840846 | 1.000 | 0.040 | 15 | 73633678 | 5 prime UTR variant | A/- | del | 1.4E-02 | 1 | ||
rs1042173 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 14 | ||
rs1341239 | 0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 | 8 | ||
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 | ||
rs74315457 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 5 | |
rs17486278 | 0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 | 4 | ||
rs2709370 | 0.851 | 0.120 | 2 | 207517878 | intron variant | A/C | snv | 0.17 | 4 | ||
rs2844337 | 0.851 | 0.120 | 11 | 77322663 | 3 prime UTR variant | A/C | snv | 0.28 | 4 | ||
rs4790953 | 0.851 | 0.160 | 17 | 65230912 | downstream gene variant | A/C | snv | 0.17 | 4 | ||
rs1935062 | 0.882 | 0.080 | 13 | 105475787 | intron variant | A/C | snv | 0.32 | 3 | ||
rs2239647 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 3 | |
rs4790694 | 0.882 | 0.160 | 17 | 4723059 | downstream gene variant | A/C | snv | 0.73 | 3 | ||
rs2073380 | 0.925 | 0.040 | 21 | 46443844 | missense variant | A/C | snv | 0.22 | 0.18 | 2 | |
rs7553796 | 0.925 | 0.120 | 1 | 154431930 | intron variant | A/C | snv | 0.60 | 2 | ||
rs1225934 | 1.000 | 0.040 | 6 | 7877186 | intron variant | A/C | snv | 0.54 | 1 | ||
rs12582848 | 1.000 | 0.040 | 12 | 13878511 | intron variant | A/C | snv | 0.59 | 1 | ||
rs138880 | 1.000 | 0.040 | 22 | 49824963 | intron variant | A/C | snv | 0.36 | 1 | ||
rs1601012 | 1.000 | 0.040 | 12 | 51685722 | intron variant | A/C | snv | 0.70 | 1 | ||
rs2075713 | 1.000 | 0.040 | 11 | 124748043 | intron variant | A/C | snv | 0.21 | 1 |