Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs1057518921 | 1.000 | X | 71132465 | missense variant | G/A | snv | 7 | ||||
rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
rs724159953 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 7 | ||||
rs797044526 | 0.925 | 21 | 37490393 | missense variant | C/T | snv | 7 | ||||
rs1057518770 | 1.000 | 15 | 25354536 | missense variant | C/T | snv | 6 | ||||
rs542652468 | 0.882 | 19 | 41986177 | missense variant | G/A;T | snv | 6 | ||||
rs724159951 | 21 | 37493101 | missense variant | T/C | snv | 6 | |||||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs724159955 | 1.000 | 21 | 37512002 | missense variant | C/A | snv | 6 | ||||
rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
rs797044520 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 6 | ||||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs1189909394 | 11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 | 5 | ||||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs1565369746 | 11 | 64297507 | missense variant | C/A | snv | 5 | |||||
rs1568925507 | 1.000 | 20 | 63438654 | inframe insertion | -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC | delins | 5 | ||||
rs397514452 | 1.000 | 10 | 74670258 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 5 | |||
rs879255368 | 19 | 41984953 | missense variant | C/G;T | snv | 5 |