Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727502902 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 4 | ||
rs113994088 | 0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv | 3 | |||
rs149840192 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 3 | |||
rs1057519729 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 2 | |||
rs121913229 | 0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 | 2 | ||
rs121913231 | 1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 | 2 | ||
rs121913430 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 2 | |||
rs397516975 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 2 | |||
rs397516979 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 2 | |||
rs863225283 | 0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv | 2 | |||
rs1057519783 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 1 | |||
rs1057519784 | 0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv | 1 | |||
rs1057519788 | 0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv | 1 | |||
rs1057519858 | 1.000 | 0.080 | 19 | 1220495 | missense variant | G/T | snv | 1 | |||
rs121913420 | 1.000 | 0.080 | 7 | 55174737 | missense variant | G/A | snv | 1 | |||
rs121913427 | 1.000 | 0.080 | 7 | 55174773 | missense variant | G/A;C | snv | 1 | |||
rs121913432 | 1.000 | 0.080 | 7 | 55181327 | missense variant | A/G | snv | 1 | |||
rs121913464 | 1.000 | 0.080 | 7 | 55174792 | missense variant | C/A | snv | 1 | |||
rs121913466 | 1.000 | 0.080 | 7 | 55174762 | missense variant | T/C | snv | 1 | |||
rs121913467 | 1.000 | 0.080 | 7 | 55174730 | stop gained | G/A | snv | 1 | |||
rs1554350366 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 1 | |||
rs1555618025 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 1 | |||
rs267598140 | 0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv | 1 | |||
rs397516890 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 1 | |||
rs397516897 | 1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del | 1 |