Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1024983534 | 0.882 | 0.080 | 5 | 1294569 | missense variant | C/G | snv | 7.0E-06 | 3 | ||
rs104893968 | 0.790 | 0.200 | 6 | 42173762 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-03 | 8 | ||
rs104894671 | 0.851 | 0.080 | 19 | 47836381 | missense variant | A/C | snv | 4 | |||
rs104894672 | 0.882 | 0.080 | 19 | 47836263 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs104894673 | 0.776 | 0.160 | 19 | 47839335 | missense variant | C/T | snv | 2.1E-05 | 8 | ||
rs1060503013 | 0.882 | 0.080 | 5 | 1294844 | missense variant | G/A;C | snv | 1.5E-05 | 3 | ||
rs1186374130 | 1.000 | 0.080 | 12 | 110209209 | missense variant | T/C | snv | 8.2E-06 | 1 | ||
rs12086634 | 0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 | 6 | |
rs121434631 | 0.807 | 0.080 | 6 | 42179248 | missense variant | C/G;T | snv | 4.0E-06 | 6 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1234399841 | 0.882 | 0.080 | 2 | 61839728 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
rs137853190 | 0.925 | 0.080 | 6 | 63720626 | stop gained | A/T | snv | 1.6E-05 | 2 | ||
rs1410483989 | 0.925 | 0.120 | 15 | 90433737 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1415160006 | 1.000 | 0.080 | 6 | 63720689 | missense variant | A/T | snv | 7.0E-06 | 1 | ||
rs146705250 | 0.882 | 0.080 | 21 | 38403679 | missense variant | C/T | snv | 8.0E-06 | 4.2E-05 | 3 | |
rs149672683 | 0.925 | 0.080 | 7 | 21430082 | missense variant | A/G | snv | 1.8E-02 | 6.5E-03 | 2 | |
rs1568626209 | 1.000 | 0.080 | 19 | 47839569 | frameshift variant | G/- | del | 1 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 17 | |
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs281865404 | 0.851 | 0.080 | 1 | 94014675 | missense variant | GG/CA | mnv | 4 | |||
rs281865516 | 1.000 | 0.080 | 19 | 47839678 | frameshift variant | C/- | delins | 1 | |||
rs28933695 | 0.851 | 0.080 | 17 | 8014699 | missense variant | G/C | snv | 4 | |||
rs28942109 | 0.882 | 0.160 | 5 | 134608443 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 3 | |
rs373032226 | 0.925 | 0.080 | 14 | 67727062 | missense variant | C/T | snv | 9.5E-05 | 2.8E-05 | 2 |