Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553284997 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 17 | |||
rs113993993 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 9 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 8 | |
rs587782545 | 0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 | 4 | |
rs730881864 | 0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 | 4 | ||
rs767215758 | 0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 | 4 | ||
rs199422294 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 4 | |||
rs113993992 | 0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs121918661 | 0.882 | 0.120 | 5 | 1294282 | missense variant | C/T | snv | 3.2E-04 | 1.8E-04 | 2 | |
rs121918662 | 0.882 | 0.120 | 5 | 1279341 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs61754966 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 1 | ||
rs193302875 | 1.000 | 0.040 | 10 | 70598558 | missense variant | C/A | snv | 1 | |||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 1 | ||
rs199422295 | 0.882 | 0.120 | 5 | 1279376 | missense variant | C/T | snv | 1 |