Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1569167586 | 0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins | 9 | |||
rs74315514 | 0.925 | 0.280 | 22 | 37977999 | stop gained | C/A | snv | 2 | |||
rs74315520 | 0.925 | 0.280 | 22 | 37973767 | stop gained | G/A | snv | 2 | |||
rs121909117 | 1.000 | 0.080 | 22 | 37978094 | missense variant | G/A | snv | 1 | |||
rs1373797370 | 1.000 | 0.080 | 22 | 37978112 | missense variant | C/G;T | snv | 1 | |||
rs1555937390 | 1.000 | 0.080 | 22 | 37973789 | frameshift variant | G/- | del | 1 | |||
rs1555937400 | 1.000 | 0.080 | 22 | 37973806 | stop gained | G/A | snv | 1 | |||
rs1555937463 | 1.000 | 0.080 | 22 | 37973961 | frameshift variant | -/T | delins | 1 | |||
rs1555939403 | 1.000 | 0.080 | 22 | 37983359 | stop gained | C/G;T | snv | 1 | |||
rs1555939421 | 1.000 | 0.080 | 22 | 37983404 | frameshift variant | -/G | delins | 1 | |||
rs1555939426 | 1.000 | 0.080 | 22 | 37983421 | missense variant | G/C | snv | 1 | |||
rs1555939459 | 1.000 | 0.080 | 22 | 37983484 | stop gained | T/A | snv | 1 | |||
rs1555939460 | 1.000 | 0.080 | 22 | 37983485 | frameshift variant | GCT/CC | delins | 1 | |||
rs1555939476 | 1.000 | 0.080 | 22 | 37983510 | frameshift variant | -/GGGCATGGGCACCAGCGTCC | delins | 1 | |||
rs73415876 | 1.000 | 0.080 | 22 | 37983536 | stop gained | G/A;C;T | snv | 9.2E-03 | 1 | ||
rs763210407 | 1.000 | 0.080 | 22 | 37977978 | stop gained | C/A;G;T | snv | 1.6E-05; 6.9E-05 | 1 | ||
rs1064796049 | 1.000 | 0.080 | 22 | 37983644 | frameshift variant | C/- | delins | 1 | |||
rs1555937395 | 1.000 | 0.080 | 22 | 37973800 | frameshift variant | -/C | delins | 1 | |||
rs1555939523 | 1.000 | 0.080 | 22 | 37983658 | stop gained | G/A | snv | 1 | |||
rs281797260 | 1.000 | 0.080 | 22 | 37977943 | stop gained | G/C | snv | 1 | |||
rs397515366 | 1.000 | 0.080 | 22 | 37978081 | inframe insertion | -/AGGAGC | ins | 1 | |||
rs397515367 | 1.000 | 0.080 | 22 | 37973818 | frameshift variant | CT/- | delins | 1 |