Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs863224876 | 0.925 | 0.120 | 20 | 58909991 | stop gained | C/T | snv | 2 | |||
rs797045203 | 1.000 | 0.040 | 20 | 58909540 | missense variant | C/A | snv | 1 | |||
rs797045046 | 0.925 | 0.120 | 20 | 58891760 | stop gained | C/G;T | snv | 5.0E-06 | 2 | ||
rs587776829 | 0.882 | 0.200 | 20 | 58909194 | frameshift variant | GACT/- | delins | 3 | |||
rs397514457 | 1.000 | 0.120 | 20 | 58910807 | missense variant | T/G | snv | 1 | |||
rs397514456 | 1.000 | 0.120 | 20 | 58910818 | stop gained | G/A;T | snv | 1 | |||
rs1569032751 | 1.000 | 0.040 | 20 | 58910787 | inframe deletion | CAT/- | delins | 1 | |||
rs1569015549 | 1.000 | 0.120 | 20 | 58903573 | missense variant | A/C | snv | 1 | |||
rs1555891562 | 1.000 | 20 | 58909707 | missense variant | G/A | snv | 3 | ||||
rs1555889131 | 1.000 | 0.120 | 20 | 58903792 | splice donor variant | G/A | snv | 1 | |||
rs1555868362 | 1.000 | 20 | 58840368 | frameshift variant | -/A | delins | 1 | ||||
rs137854539 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 27 | |||
rs137854538 | 1.000 | 0.120 | 20 | 58909553 | missense variant | G/A | snv | 1 | |||
rs137854537 | 0.925 | 0.120 | 20 | 58910740 | missense variant | G/A;T | snv | 1 | |||
rs137854536 | 1.000 | 0.120 | 20 | 58909737 | missense variant | CG/GC | mnv | 1 | |||
rs137854535 | 0.925 | 0.120 | 20 | 58909737 | missense variant | C/T | snv | 1 | |||
rs137854534 | 1.000 | 0.120 | 20 | 58909715 | missense variant | C/G | snv | 1 | |||
rs137854533 | 0.925 | 0.040 | 20 | 58909542 | missense variant | G/C;T | snv | 2 | |||
rs137854532 | 0.882 | 0.160 | 20 | 58905443 | missense variant | C/T | snv | 1 | |||
rs137854531 | 1.000 | 0.120 | 20 | 58903569 | missense variant | T/C | snv | 1 | |||
rs137854530 | 0.776 | 0.240 | 20 | 58891727 | start lost | A/G;T | snv | 8 | |||
rs1272546759 | 0.925 | 0.120 | 20 | 58909718 | missense variant | C/G;T | snv | 7.0E-06 | 4 | ||
rs121913495 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 15 | |||
rs121913494 | 0.827 | 0.240 | 20 | 58909541 | missense variant | A/G;T | snv | 3 | |||
rs11554273 | 0.689 | 0.240 | 20 | 58909365 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 |