Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs28360317 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 15 | ||
rs56228771 | 0.827 | 0.200 | 22 | 40410091 | 3 prime UTR variant | -/GTCT;GTCTGTCT | delins | 5 | |||
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs779682021 | 0.882 | 0.120 | 15 | 74721227 | missense variant | A/C | snv | 5 | |||
rs833052 | 0.827 | 0.160 | 6 | 43755598 | intergenic variant | A/C | snv | 0.88 | 5 | ||
rs11077654 | 0.882 | 0.120 | 17 | 73010373 | intron variant | A/C | snv | 0.69 | 3 | ||
rs17650301 | 0.925 | 0.120 | 17 | 64483156 | intron variant | A/C | snv | 0.23 | 3 | ||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs41277434 | 0.851 | 0.160 | 7 | 148809304 | splice region variant | A/C;G | snv | 6.8E-02; 8.0E-06 | 6 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs17855750 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 21 | ||
rs11892031 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 5 | |||
rs9913017 | 0.882 | 0.120 | 17 | 73014881 | intron variant | A/C;T | snv | 3 | |||
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 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs768623239 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 26 | ||
rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 18 | |||
rs34009635 | 0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 | 17 |