Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28381975 | 0.827 | 0.200 | 3 | 33798239 | intron variant | -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA | delins | 5 | |||
rs10629804 | 1.000 | 0.080 | 5 | 123142307 | intron variant | -/TTCAC | delins | 0.72 | 1 | ||
rs587780174 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 7 | |
rs5780218 | 0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 | 4 | ||
rs11288072 | 1.000 | 0.080 | 5 | 159008453 | intron variant | A/- | del | 0.25 | 1 | ||
rs146817970 | 1.000 | 0.080 | 5 | 82217129 | intron variant | A/- | del | 0.19 | 1 | ||
rs5837757 | 1.000 | 0.080 | 2 | 200849597 | upstream gene variant | A/- | del | 0.15 | 1 | ||
rs80359306 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 6 | |||
rs80359770 | 0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins | 5 | |||
rs886039958 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 3 | |||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
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 | ||
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs4968451 | 0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 | 13 | ||
rs1204382931 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 10 | ||
rs6498486 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 8 | ||
rs1990172 | 0.827 | 0.120 | 7 | 20164512 | intron variant | A/C | snv | 0.27 | 6 | ||
rs2410373 | 0.851 | 0.120 | 8 | 16066997 | intergenic variant | A/C | snv | 0.34 | 6 | ||
rs6180 | 0.827 | 0.160 | 5 | 42719137 | missense variant | A/C | snv | 0.44 | 0.43 | 6 | |
rs16917302 | 0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 | 5 | ||
rs190900046 | 0.827 | 0.160 | 17 | 43104197 | synonymous variant | A/C | snv | 8.0E-06 | 4.2E-05 | 5 | |
rs2296135 | 0.851 | 0.080 | 10 | 5952731 | 3 prime UTR variant | A/C | snv | 0.58 | 5 |