Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs749303395 | 0.882 | 0.040 | 1 | 114680329 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs567798234 | 0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 5 | |
rs9943582 | 0.807 | 0.120 | 11 | 57237593 | upstream gene variant | T/C | snv | 0.63 | 8 | ||
rs1253810269 | 0.882 | 0.080 | 1 | 26696971 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs991104525 | 0.882 | 0.160 | 5 | 78969051 | missense variant | G/A | snv | 1.2E-05 | 7.7E-05 | 4 | |
rs1860561 | 0.851 | 0.080 | 12 | 110345436 | intron variant | G/A | snv | 0.19 | 5 | ||
rs73956431 | 0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 | 6 | ||
rs397516881 | 0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv | 7 | |||
rs8259 | 0.776 | 0.200 | 19 | 582927 | 3 prime UTR variant | T/A | snv | 0.39 | 9 | ||
rs6684209 | 1.000 | 0.040 | 1 | 115707991 | intron variant | C/T | snv | 0.17 | 2 | ||
rs7521023 | 1.000 | 0.040 | 1 | 115700759 | 3 prime UTR variant | G/A | snv | 0.64 | 2 | ||
rs1056892 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 6 | |
rs140226130 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 8 | ||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs10757278 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 44 | ||
rs10757274 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 22 | ||
rs2383207 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 22 | ||
rs2383206 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 17 | ||
rs10927887 | 0.925 | 0.040 | 1 | 16024780 | missense variant | A/C;G | snv | 0.55 | 3 | ||
rs398122917 | 0.882 | 0.080 | X | 155280059 | missense variant | G/C | snv | 4.4E-05 | 1.1E-04 | 5 | |
rs10501920 | 0.882 | 0.080 | 11 | 99622442 | intron variant | C/G | snv | 0.14 | 3 | ||
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 9 | |||
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs535039125 | 0.851 | 0.040 | 19 | 41004380 | missense variant | C/T | snv | 1.1E-04 | 1.3E-04 | 5 | |
rs1303946678 | 0.925 | 0.040 | 22 | 42126851 | missense variant | C/G | snv | 3 |