Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518731 | 0.807 | 0.280 | 17 | 63833908 | splice donor variant | C/T | snv | 7 | |||
rs1057518733 | 0.807 | 0.280 | 17 | 63837439 | splice donor variant | A/G | snv | 7 | |||
rs1555580263 | 0.827 | 0.240 | 17 | 63837200 | stop gained | -/AGGTAGAACCTTATCTGCCATCTTC | delins | 6 | |||
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs601338 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 19 | |
rs1131692245 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 7 | |||
rs2294021 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 8 | ||
rs1057520529 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 5 |