Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1567010427 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 11 | ||||
rs1057518834 | X | 32849737 | frameshift variant | C/- | delins | 9 | |||||
rs797044519 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 9 | ||||
rs797044522 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 9 | ||||
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs797044524 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 9 | ||||
rs797044525 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 9 | ||||
rs1057519338 | 0.882 | X | 110264571 | stop gained | G/A | snv | 8 | ||||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs797044526 | 0.925 | 21 | 37490393 | missense variant | C/T | snv | 7 | ||||
rs120074160 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 6 | ||
rs765498367 | 0.925 | X | 110317643 | stop gained | A/G;T | snv | 1.2E-04 | 2.8E-05 | 6 | ||
rs797044520 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 6 | ||||
rs1057516037 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 4 | ||||
rs1561002040 | 1.000 | 4 | 139454380 | frameshift variant | C/- | delins | 4 | ||||
rs373730800 | 0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 | 4 | |||
rs757167361 | 0.925 | 17 | 2030171 | missense variant | T/A;C;G | snv | 4 | ||||
rs189150283 | 0.925 | 22 | 20992304 | stop gained | C/T | snv | 6.0E-05 | 7.0E-05 | 3 | ||
rs1158061584 | 13 | 32443086 | frameshift variant | T/-;TT | delins | 1 | |||||
rs1230432769 | X | 48962751 | missense variant | G/A | snv | 2.9E-05 | 1 | ||||
rs1259852690 | 16 | 30669598 | missense variant | C/G | snv | 4.2E-06 | 2.8E-05 | 1 | |||
rs1297383239 | 19 | 1091909 | splice acceptor variant | T/C | snv | 4.0E-06 | 1 | ||||
rs1333906033 | 22 | 49883834 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
rs1363884891 | 18 | 12673471 | missense variant | C/T | snv | 7.0E-06 | 1 |