Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs1553212868 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 17 | |||
rs869312824 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 14 | |||
rs869320624 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 13 | ||
rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 12 | ||
rs1557612048 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 11 | |||
rs869312825 | 0.827 | 0.120 | 1 | 1804548 | start lost | T/C | snv | 11 | |||
rs139073416 | 0.882 | 0.240 | 1 | 26795056 | missense variant | C/A;T | snv | 1.2E-04 | 9 | ||
rs386834034 | 0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 | 9 | ||
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs869312823 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 9 | |||
rs1553196101 | 0.925 | 0.080 | 1 | 22086507 | missense variant | T/C | snv | 8 | |||
rs1557569831 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 8 | |||
rs1799821 | 0.827 | 0.200 | 1 | 53210776 | missense variant | G/A | snv | 0.49 | 0.46 | 8 | |
rs2229291 | 0.827 | 0.200 | 1 | 53210729 | missense variant | T/G | snv | 2.3E-02 | 1.5E-02 | 8 | |
rs558269137 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 8 | ||
rs746200792 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 8 | |||
rs776095655 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 8 | ||
rs869312687 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 8 | |||
rs869312822 | 0.827 | 0.200 | 1 | 1806514 | missense variant | A/C | snv | 8 |