Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1417373701 | 0.925 | 0.120 | 5 | 102399606 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs773403329 | 0.925 | 0.120 | 5 | 102419925 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 2 | |
rs1314736087 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 5 | ||
rs80356715 | 0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 | 6 | ||
rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 12 | ||
rs1189501362 | 0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 | 4 | ||
rs1595014 | 0.882 | 0.120 | 7 | 12148903 | intergenic variant | T/A | snv | 0.23 | 3 | ||
rs3173615 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 12 | ||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs747481280 | 0.851 | 0.120 | 10 | 13132068 | missense variant | T/G | snv | 8.0E-06 | 4 | ||
rs866604606 | 0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv | 4 | |||
rs63750066 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 9 | |
rs1386984902 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 9 | |||
rs781049584 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 18 | |
rs74315452 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 12 | |||
rs767379602 | 0.882 | 0.120 | 9 | 35060823 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs121909331 | 0.851 | 0.200 | 9 | 35064167 | missense variant | G/T | snv | 5 | |||
rs387906789 | 0.742 | 0.200 | 9 | 35065352 | missense variant | G/A;C | snv | 4.0E-06 | 14 | ||
rs121909329 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 11 | |||
rs121909330 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 11 | |||
rs139108915 | 0.925 | 0.120 | 9 | 36840599 | missense variant | G/A | snv | 1.0E-05 | 9.8E-05 | 3 | |
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs9897526 | 0.925 | 0.120 | 17 | 44349572 | non coding transcript exon variant | G/A;C | snv | 0.16 | 2 | ||
rs63751294 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 6 | ||
rs5848 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 17 |