Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2306235 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 6 | |
rs9351814 | 0.882 | 0.040 | 6 | 71484004 | intergenic variant | A/C | snv | 0.35 | 4 | ||
rs958546 | 0.882 | 0.040 | 13 | 46259582 | intron variant | G/C | snv | 0.29 | 3 | ||
rs12567209 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 6 | ||
rs2549513 | 0.851 | 0.080 | 16 | 79516830 | downstream gene variant | C/A;T | snv | 4 | |||
rs499818 | 0.851 | 0.080 | 6 | 13332235 | upstream gene variant | G/A | snv | 0.21 | 4 | ||
rs740363 | 0.851 | 0.080 | 10 | 116816095 | intron variant | G/A | snv | 0.40 | 5 | ||
rs37369 | 0.807 | 0.120 | 5 | 35037010 | missense variant | C/T | snv | 0.21 | 0.25 | 9 | |
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 9 | |||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs3798220 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 16 | |
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs8259 | 0.776 | 0.200 | 19 | 582927 | 3 prime UTR variant | T/A | snv | 0.39 | 9 | ||
rs2383207 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 22 | ||
rs10455872 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 33 | ||
rs10757274 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 22 | ||
rs2383206 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 17 | ||
rs1799895 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 26 | |
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 25 | ||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs10757278 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 44 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 |