Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386833973 | 1.000 | 0.120 | 13 | 76995942 | frameshift variant | -/A | ins | 1 | |||
rs386833979 | 0.925 | 0.120 | 13 | 76996083 | frameshift variant | -/C | delins | 2 | |||
rs386833970 | 1.000 | 0.120 | 13 | 76992238 | frameshift variant | -/C | delins | 1 | |||
rs1555274337 | 1.000 | 0.120 | 13 | 77000556 | frameshift variant | -/CAGAGACA | delins | 1 | |||
rs1555274005 | 1.000 | 0.120 | 13 | 76996071 | frameshift variant | -/TGATG | delins | 1 | |||
rs1555274369 | 1.000 | 0.120 | 13 | 77000796 | frameshift variant | A/- | delins | 1 | |||
rs386833982 | 1.000 | 0.120 | 13 | 77000663 | frameshift variant | A/- | delins | 1 | |||
rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
rs148862100 | 1.000 | 0.120 | 13 | 77000866 | missense variant | A/G | snv | 1.3E-05 | 7.0E-06 | 1 | |
rs386833967 | 0.925 | 0.120 | 13 | 77000845 | frameshift variant | AACA/- | delins | 2.8E-05 | 2 | ||
rs1057517134 | 1.000 | 0.120 | 13 | 76992250 | frameshift variant | ACTGGCCGGTGCC/- | delins | 1 | |||
rs386833969 | 0.925 | 0.120 | 13 | 77000918 | frameshift variant | AT/- | delins | 2 | |||
rs786204644 | 0.925 | 0.120 | 13 | 77000667 | frameshift variant | AT/- | delins | 2 | |||
rs1555273567 | 1.000 | 0.120 | 13 | 76992116 | frameshift variant | C/- | del | 1 | |||
rs1555273882 | 1.000 | 0.120 | 13 | 76995079 | frameshift variant | C/- | delins | 1 | |||
rs386833963 | 1.000 | 0.120 | 13 | 77000771 | stop gained | C/A | snv | 1 | |||
rs750935331 | 1.000 | 0.120 | 13 | 77000850 | stop gained | C/G;T | snv | 4.1E-06 | 1 | ||
rs546989392 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 2 | |
rs386833971 | 1.000 | 0.120 | 13 | 76995175 | stop gained | C/T | snv | 2.4E-05 | 1 | ||
rs386833974 | 1.000 | 0.120 | 13 | 76995980 | stop gained | C/T | snv | 1 | |||
rs386833977 | 1.000 | 0.120 | 13 | 76996028 | missense variant | C/T | snv | 1 | |||
rs869312751 | 1.000 | 0.120 | 13 | 76996109 | stop gained | C/T | snv | 1 | |||
rs1555274344 | 1.000 | 0.120 | 13 | 77000605 | frameshift variant | CCTTTAAC/- | del | 1 | |||
rs386833964 | 1.000 | 0.120 | 13 | 77000813 | frameshift variant | CT/- | delins | 1 | |||
rs587780315 | 1.000 | 0.120 | 13 | 76996086 | frameshift variant | G/- | delins | 2 |