Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs764314276 | 0.925 | 0.200 | 5 | 150375721 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs1554080460 | 0.925 | 0.120 | 5 | 150396468 | frameshift variant | -/G | delins | 2 | |||
rs1057521108 | 1.000 | 0.120 | 5 | 150357796 | missense variant | A/G | snv | 1 | |||
rs1275362181 | 1.000 | 0.120 | 12 | 124356727 | synonymous variant | G/A | snv | 1 | |||
rs1064794474 | 1.000 | 0.120 | 5 | 150375120 | frameshift variant | ACAG/- | delins | 1 | |||
rs119470016 | 1.000 | 0.120 | 5 | 150374288 | stop gained | C/T | snv | 1 | |||
rs119470017 | 1.000 | 0.120 | 5 | 150388004 | stop gained | C/T | snv | 1 | |||
rs1554078461 | 1.000 | 0.120 | 5 | 150389971 | frameshift variant | -/G | delins | 1 | |||
rs1554081108 | 1.000 | 0.120 | 5 | 150398365 | frameshift variant | AA/- | delins | 1 | |||
rs1554081112 | 1.000 | 0.120 | 5 | 150398365 | frameshift variant | GAAA/- | delins | 1 | |||
rs1554081168 | 1.000 | 0.120 | 5 | 150398416 | frameshift variant | CT/- | delins | 1 | |||
rs1554136123 | 1.000 | 0.120 | 5 | 150375029 | frameshift variant | -/C | delins | 1 | |||
rs1554137419 | 1.000 | 0.120 | 5 | 150376425 | frameshift variant | AA/- | delins | 1 | |||
rs1554137531 | 1.000 | 0.120 | 5 | 150376563 | frameshift variant | CT/- | delins | 1 | |||
rs1554138811 | 1.000 | 0.120 | 5 | 150379668 | stop gained | C/G | snv | 1 | |||
rs1554138819 | 1.000 | 0.120 | 5 | 150379669 | frameshift variant | AG/- | del | 1 | |||
rs1561540623 | 1.000 | 0.120 | 5 | 150396714 | frameshift variant | -/G | delins | 1 | |||
rs1562347303 | 1.000 | 0.120 | 5 | 150375052 | frameshift variant | AG/- | del | 1 | |||
rs28941769 | 1.000 | 0.120 | 5 | 150361196 | missense variant | A/G | snv | 1 | |||
rs56180593 | 1.000 | 0.120 | 5 | 150361169 | missense variant | C/T | snv | 2.1E-03 | 2.3E-03 | 1 | |
rs587776580 | 1.000 | 0.120 | 5 | 150368758 | frameshift variant | -/A | delins | 1 | |||
rs587776581 | 1.000 | 0.120 | 5 | 150368834 | frameshift variant | ATAC/- | del | 1 | |||
rs587776582 | 1.000 | 0.120 | 5 | 150398373 | frameshift variant | AAGAA/- | delins | 1 | |||
rs587776583 | 1.000 | 0.120 | 5 | 150375485 | frameshift variant | AGAG/-;AG | delins | 7.0E-06 | 1 | ||
rs587776584 | 1.000 | 0.120 | 5 | 150367912 | splice donor variant | AAGGTGAGTGGGACTGCC/- | delins | 1 |