Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs16147 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 18 | ||
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 18 | |
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs74421874 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 14 | ||
rs7997012 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 11 | ||
rs12454712 | 0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv | 9 | |||
rs2514259 | 0.807 | 0.280 | 11 | 67479201 | upstream gene variant | C/G;T | snv | 8 | |||
rs11568817 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 8 | ||
rs4245146 | 1.000 | 0.040 | 11 | 113447251 | intron variant | T/C | snv | 0.49 | 3 | ||
rs2463107 | 1.000 | 0.040 | 12 | 79699537 | intron variant | A/C | snv | 0.36 | 2 | ||
rs4792888 | 0.925 | 0.040 | 17 | 45800588 | non coding transcript exon variant | A/G | snv | 0.17 | 2 | ||
rs6918679 | 1.000 | 0.040 | 6 | 74822861 | intergenic variant | C/G;T | snv | 1 | |||
rs78602344 | 1.000 | 0.040 | 6 | 169226486 | intron variant | T/C | snv | 6.4E-02 | 1 |