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 | |||
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 | ||
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 | 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 | 3 | ||
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs7741604 | 0.925 | 0.120 | 6 | 20731293 | intron variant | A/C;T | snv | 2 | |||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 1 | |||
rs80338945 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 32 | |
rs148881970 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 22 | |
rs1060499733 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 11 | |||
rs11191454 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 5 | ||
rs9635542 | 1.000 | 0.040 | 16 | 4951379 | intron variant | A/G | snv | 0.11 | 2 | ||
rs1057518999 | 1.000 | 0.040 | 3 | 70977826 | splice donor variant | A/G | snv | 1 |