Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28357681 | 0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv | 4 | |||
rs144551722 | 0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 | 4 | ||
rs1801198 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 26 | ||
rs6971 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 11 | |
rs2904551 | 0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 | 8 | |
rs2017309 | 0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 | 4 | ||
rs2235573 | 0.882 | 0.040 | 22 | 38081923 | synonymous variant | G/A | snv | 0.47 | 0.46 | 4 | |
rs121912438 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 58 | ||
rs3788266 | 0.732 | 0.160 | 21 | 46606442 | upstream gene variant | G/A | snv | 0.50 | 12 | ||
rs74315452 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 12 | |||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs2297440 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 10 | ||
rs6062302 | 0.882 | 0.040 | 20 | 63689615 | synonymous variant | T/C | snv | 0.74 | 0.81 | 4 | |
rs8957 | 0.925 | 0.040 | 20 | 63742354 | missense variant | G/T | snv | 0.71 | 0.78 | 2 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1982073 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 32 | |||
rs11548193 | 0.925 | 0.040 | 19 | 48799813 | missense variant | G/A;C | snv | 0.14 | 2 | ||
rs11670188 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 2 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 |