Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1005230 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 5 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs1029044314 | 0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv | 4 | |||
rs10464870 | 0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 | 3 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs1057519902 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 16 | |||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs1057519904 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 17 | |||
rs10852606 | 0.882 | 0.040 | 16 | 50094961 | intron variant | T/A;C | snv | 4 | |||
rs11196067 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 10 | ||
rs11233250 | 0.882 | 0.040 | 11 | 82685972 | intron variant | C/T | snv | 0.11 | 4 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1135401891 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 7 | |||
rs11670188 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 2 | ||
rs11860248 | 0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 | 5 | ||
rs11979158 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 5 | ||
rs1205454520 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 10 | ||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 25 | |||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 26 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913444 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 18 | |||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs121913503 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 23 | |||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 25 | |||
rs12230172 | 0.882 | 0.040 | 12 | 75848895 | intron variant | A/G | snv | 0.48 | 4 |