Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555144459 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 3 | |||
rs1555740394 | 0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins | 5 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs34808376 | 0.925 | 0.040 | 7 | 155456016 | intron variant | -/GC | delins | 2 | |||
rs3832300 | 1.000 | 0.040 | 4 | 47426318 | 3 prime UTR variant | -/T | delins | 5.1E-02 | 2 | ||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 | |||
rs10185592 | 1.000 | 0.040 | 2 | 205829457 | intergenic variant | A/C | snv | 0.11 | 1 | ||
rs1064794245 | 1.000 | 0.040 | 22 | 40349918 | missense variant | A/C | snv | 1 | |||
rs2217262 | 1.000 | 0.040 | 7 | 112156322 | intron variant | A/C | snv | 7.2E-02 | 1 | ||
rs6452305 | 1.000 | 0.040 | 5 | 25924513 | intergenic variant | A/C | snv | 0.69 | 1 | ||
rs9302952 | 1.000 | 0.040 | 17 | 73068087 | non coding transcript exon variant | A/C | snv | 0.14 | 1 | ||
rs876660634 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 10 | |||
rs2292305 | 0.882 | 0.080 | 15 | 39588621 | missense variant | A/C;G | snv | 4.0E-06; 0.16 | 4 | ||
rs1119032 | 1.000 | 0.040 | 5 | 140902846 | intron variant | A/C;G | snv | 1 | |||
rs12690517 | 1.000 | 0.040 | 2 | 181509807 | splice region variant | A/C;G | snv | 1 | |||
rs3797817 | 1.000 | 0.040 | 5 | 108948641 | intron variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs2253031 | 1.000 | 0.040 | 7 | 147934809 | intron variant | A/C;G;T | snv | 1 | |||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 |