Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs334558 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 20 | ||
rs74421874 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 14 | ||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs76481776 | 0.925 | 0.200 | 7 | 129770387 | non coding transcript exon variant | C/G;T | snv | 5.9E-02 | 4 | ||
rs13130123 | 4 | 143587435 | intron variant | T/C | snv | 0.26 | 1 | ||||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs1006737 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 27 | ||
rs7602358 | 0.827 | 0.080 | 2 | 238147187 | intron variant | G/T | snv | 0.83 | 6 | ||
rs2298383 | 0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv | 11 | |||
rs5751876 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 16 | |
rs4822492 | 1.000 | 0.040 | 22 | 24447626 | intron variant | C/G | snv | 0.47 | 4 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs619002 | 1.000 | 0.040 | 2 | 31266099 | intron variant | C/T | snv | 0.86 | 2 | ||
rs644926 | 1.000 | 0.040 | 2 | 31266861 | 3 prime UTR variant | T/C | snv | 0.86 | 2 | ||
rs1129844 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 13 | ||
rs33458 | 1.000 | 0.040 | 3 | 42362535 | intergenic variant | C/A;G;T | snv | 2 | |||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs74315403 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 10 | |||
rs74315408 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 16 | |
rs28933385 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 25 |