Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs1039808 | 0.925 | 0.080 | 4 | 125318831 | missense variant | C/G;T | snv | 4.0E-06; 0.41 | 3 | ||
rs12508222 | 0.925 | 0.080 | 4 | 125449492 | missense variant | G/A;T | snv | 4.3E-02; 2.0E-05 | 3 | ||
rs1567047 | 0.925 | 0.080 | 4 | 125451587 | missense variant | G/A | snv | 0.27 | 0.22 | 3 | |
rs753225272 | 0.925 | 0.080 | 4 | 125491730 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs1014867 | 0.925 | 0.080 | 4 | 125491736 | missense variant | C/T | snv | 4.9E-02 | 4.9E-02 | 3 | |
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs2242652 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 16 | ||
rs61748181 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 10 | |
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs2308321 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 29 | |
rs465498 | 0.776 | 0.200 | 5 | 1325688 | non coding transcript exon variant | A/G | snv | 0.46 | 9 | ||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs2031920 | 0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 | 20 | ||
rs750408412 | 0.925 | 0.080 | 10 | 133538938 | missense variant | A/G | snv | 3 | |||
rs31564 | 0.925 | 0.080 | 5 | 135894564 | intron variant | G/A;T | snv | 3 | |||
rs31563 | 0.851 | 0.160 | 5 | 135899917 | intron variant | C/A;T | snv | 5 | |||
rs583522 | 0.925 | 0.080 | 6 | 137868747 | intron variant | C/A;T | snv | 3 | |||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs3136038 | 0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 | 13 | ||
rs767551092 | 0.790 | 0.200 | 3 | 14164838 | missense variant | G/A | snv | 4.0E-06 | 10 | ||
rs11548103 | 0.882 | 0.080 | 1 | 153615864 | splice region variant | C/T | snv | 0.40 | 0.39 | 4 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 |