Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs3024490 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 11 | |||
rs2617160 | 1.000 | 0.080 | 12 | 10392998 | intron variant | A/C;T | snv | 1 | |||
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs3077 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 16 | ||
rs9277535 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 13 | ||
rs652888 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 10 | |
rs3130542 | 0.827 | 0.160 | 6 | 31264334 | downstream gene variant | A/G | snv | 0.81 | 8 | ||
rs9275319 | 0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 | 6 | ||
rs3106796 | 0.882 | 0.160 | 2 | 188985047 | non coding transcript exon variant | A/G | snv | 0.35 | 3 | ||
rs4845384 | 1.000 | 0.080 | 1 | 154615193 | intron variant | A/G | snv | 0.69 | 1 | ||
rs4935047 | 1.000 | 0.080 | 10 | 52770307 | intron variant | A/G | snv | 0.49 | 1 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs9275572 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 15 | |||
rs7453920 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 10 | |||
rs1800630 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 17 | ||
rs3775290 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 15 | ||
rs11465817 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 4 | |||
rs7712322 | 1.000 | 0.080 | 5 | 90482078 | intron variant | C/A;T | snv | 1 | |||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs705382 | 0.827 | 0.200 | 7 | 95325909 | upstream gene variant | C/G | snv | 0.53 | 5 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 |