Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2304240 | 0.882 | 0.200 | 19 | 10338716 | synonymous variant | A/G | snv | 0.81 | 0.85 | 4 | |
rs6676671 | 0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 | 4 | ||
rs8177400 | 0.882 | 0.160 | 11 | 126292695 | missense variant | G/A;C;T | snv | 2.8E-03; 1.2E-05 | 4 | ||
rs2231231 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 5 | |
rs1353428252 | 0.851 | 0.120 | 15 | 90088681 | missense variant | A/C | snv | 8.0E-06 | 5 | ||
rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
rs2274084 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 6 | |
rs867114783 | 17 | 7675109 | missense variant | T/C | snv | 6 | |||||
rs74790047 | 0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 | 7 | |
rs267601395 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 7 | |||
rs267608150 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 7 | |||
rs267601394 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 8 | |||
rs563378859 | 0.851 | 0.320 | 17 | 7675146 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 8 | |
rs1057519781 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 9 | |||
rs63750250 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 9 | |
rs61756766 | 0.776 | 0.320 | 22 | 41925447 | missense variant | G/A | snv | 5.7E-03 | 5.7E-03 | 9 | |
rs9268853 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 10 | ||
rs9461776 | 0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 | 11 | ||
rs2071286 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 12 | ||
rs773919809 | 0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 | 13 | ||
rs3099844 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 13 | ||
rs121434629 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 13 | ||
rs995922697 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 15 | ||
rs2395185 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 17 | ||
rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 18 |