Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201518227 | 1.000 | 1 | 179917914 | missense variant | C/T | snv | 3.2E-05 | 5.6E-05 | 13 | ||
rs1567010427 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 11 | ||||
rs1559662068 | 0.925 | 3 | 9741340 | frameshift variant | AG/T | delins | 10 | ||||
rs1057518834 | X | 32849737 | frameshift variant | C/- | delins | 9 | |||||
rs797044524 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 9 | ||||
rs797044522 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 9 | ||||
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs797044525 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 9 | ||||
rs797044519 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 9 | ||||
rs138008832 | 1.000 | 5 | 150123142 | missense variant | G/A;T | snv | 1.1E-04; 1.6E-05 | 8 | |||
rs1554402092 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 8 | ||||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs1057519338 | 0.882 | X | 110264571 | stop gained | G/A | snv | 8 | ||||
rs1057518864 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 7 | ||||
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs1564062144 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 7 | ||||
rs1556009247 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 7 | ||||
rs1555928716 | 0.925 | X | 20167669 | stop gained | G/A | snv | 7 | ||||
rs1057518921 | 1.000 | X | 71132465 | missense variant | G/A | snv | 7 | ||||
rs724159953 | 1.000 | 21 | 37505352 | stop gained | C/T | snv | 7 | ||||
rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
rs797044526 | 0.925 | 21 | 37490393 | missense variant | C/T | snv | 7 | ||||
rs113331868 | 5 | 150228191 | splice donor variant | C/A;T | snv | 6 | |||||
rs1555358382 | 14 | 54844115 | stop gained | G/A | snv | 6 | |||||
rs724159955 | 1.000 | 21 | 37512002 | missense variant | C/A | snv | 6 |