Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs143319805 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 12 | |
rs80356524 | 0.882 | 0.200 | 19 | 45553777 | missense variant | C/T | snv | 3 | |||
rs80356525 | 0.882 | 0.200 | 19 | 45553741 | stop gained | G/A;C | snv | 3 | |||
rs80356523 | 0.925 | 0.200 | 19 | 45553912 | splice acceptor variant | C/G | snv | 2 | |||
rs1057516497 | 1.000 | 0.200 | 19 | 45553515 | stop lost | T/C | snv | 1 | |||
rs1382779104 | 1.000 | 0.200 | 19 | 45553840 | missense variant | T/C | snv | 8.1E-06 | 1 | ||
rs1555732963 | 1.000 | 0.200 | 19 | 45553836 | frameshift variant | -/C | delins | 1 | |||
rs1555736793 | 1.000 | 0.200 | 19 | 45584622 | splice donor variant | C/T | snv | 1 | |||
rs1555736803 | 1.000 | 0.200 | 19 | 45584664 | frameshift variant | -/T | delins | 1 | |||
rs1555736814 | 1.000 | 0.200 | 19 | 45584704 | stop gained | T/A | snv | 1 | |||
rs28937899 | 1.000 | 0.200 | 19 | 45553639 | stop gained | G/A | snv | 1 | |||
rs762180740 | 1.000 | 0.200 | 19 | 45529184 | stop gained | G/A | snv | 9.6E-05 | 1 | ||
rs80356526 | 1.000 | 0.200 | 19 | 45553715 | inframe deletion | CCTCCTTGTGGCGCTGCT/- | delins | 1 |