Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10090154 | 0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv | 7 | |||
rs12757998 | 0.925 | 0.080 | 1 | 182569343 | downstream gene variant | C/T | snv | 0.24 | 3 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs2735839 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 5 | |||
rs565453 | 0.882 | 0.160 | 5 | 112849696 | intron variant | A/C;G | snv | 4 | |||
rs9600079 | 0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 | 5 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 54 | ||
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 20 | |||
rs1800682 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 25 | ||
rs822391 | 0.925 | 0.080 | 3 | 186846014 | intron variant | C/T | snv | 0.85 | 4 | ||
rs2082940 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 10 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs3774262 | 0.851 | 0.200 | 3 | 186854025 | intron variant | G/A | snv | 0.10 | 5 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 36 | |
rs2707765 | 0.925 | 0.080 | 5 | 112786835 | intron variant | G/A;C;T | snv | 3 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1057519864 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 8 | |||
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 9 | |||
rs137852581 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 4 | |||
rs864622007 | 0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv | 4 | |||
rs976306779 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 8 | ||
rs34301344 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 22 | |
rs3803185 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 19 |