Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 19 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs2266788 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 19 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs1333049 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 60 | ||
rs3742264 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 17 | |
rs4244285 | 0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 | 18 | ||
rs1187513719 | 0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 | 4 | ||
rs1183194405 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 19 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs1387786689 | 1.000 | 0.080 | 6 | 160646235 | missense variant | G/C | snv | 1 | |||
rs16863352 | 1.000 | 0.080 | 3 | 151386249 | intron variant | A/G | snv | 6.0E-02 | 1 | ||
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs281865545 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 18 | |||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs2043556 | 0.716 | 0.440 | 10 | 51299646 | non coding transcript exon variant | T/C | snv | 0.25 | 0.24 | 17 | |
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 |