Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
rs2516839 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 14 | ||
rs3737787 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 11 | ||
rs4915076 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 3 | ||
rs3795299 | 0.925 | 0.200 | 1 | 24120978 | missense variant | G/A;C;T | snv | 9.6E-05; 0.42; 4.0E-06 | 2 | ||
rs4649295 | 0.925 | 0.080 | 1 | 233280792 | intron variant | T/C | snv | 0.60 | 2 | ||
rs2516838 | 1.000 | 0.080 | 1 | 161044580 | intron variant | C/G | snv | 0.27 | 1 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 | |||
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs1143643 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 10 | ||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs3917225 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 6 | ||
rs1420106 | 0.851 | 0.200 | 2 | 102418584 | upstream gene variant | A/G | snv | 0.78 | 5 | ||
rs79402775 | 0.827 | 0.200 | 2 | 175167648 | mature miRNA variant | G/A;T | snv | 4.4E-02; 1.0E-05 | 5 | ||
rs1248131654 | 0.851 | 0.080 | 2 | 160367217 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
rs996807218 | 0.882 | 0.080 | 2 | 8827045 | missense variant | T/C | snv | 4 |