Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs67164370 | 0.851 | 0.120 | 20 | 4787830 | intron variant | -/AGGGACT | ins | 4 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs200182588 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 6 | ||
rs80357517 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 5 | |||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs190900046 | 0.827 | 0.160 | 17 | 43104197 | synonymous variant | A/C | snv | 8.0E-06 | 4.2E-05 | 5 | |
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs7260002 | 0.882 | 0.120 | 19 | 49042615 | non coding transcript exon variant | A/C;G | snv | 0.46 | 3 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1799977 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 28 | ||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 16 | ||
rs267607911 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 8 | ||
rs80357327 | 0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv | 6 | |||
rs80357474 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 5 | ||
rs9110 | 0.851 | 0.200 | 3 | 46439310 | missense variant | A/C;G;T | snv | 0.39 | 0.40 | 4 | |
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1271572 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 16 | |||
rs80357115 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 8 | |||
rs1801243 | 0.851 | 0.200 | 13 | 51974004 | missense variant | A/C;T | snv | 0.44; 2.0E-05 | 4 | ||
rs2072590 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 4 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 |