Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1477353313 | 0.925 | 0.120 | 22 | 50744085 | missense variant | T/G | snv | 2 | |||
rs204989 | 0.925 | 0.120 | 6 | 32194075 | intron variant | G/A | snv | 0.21 | 2 | ||
rs3890733 | 0.882 | 0.120 | 12 | 47895590 | intron variant | C/T | snv | 0.27 | 3 | ||
rs204991 | 0.882 | 0.200 | 6 | 32193589 | intron variant | T/C | snv | 0.21 | 3 | ||
rs4760648 | 0.851 | 0.200 | 12 | 47886882 | intron variant | C/A;G;T | snv | 4 | |||
rs3789604 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 9 | ||
rs10499194 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 10 | ||
rs1234315 | 0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 | 6 | ||
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs1057523354 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 13 | |||
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs13277113 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 18 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs755622 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 44 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 |