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 | 213 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 28 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 37 | ||
rs2682818 | 0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 | 14 | ||
rs6505162 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 25 | ||
rs9138 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 12 | |||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs1400826115 | 1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs148704956 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 19 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 187 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 36 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 97 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 131 | |
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 24 | ||
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 25 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 |