Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs2297518 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 30 | |
rs4810485 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 16 | |||
rs1042173 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 14 | ||
rs4612666 | 0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 | 10 | ||
rs386834061 | 0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 | 10 | ||
rs10759931 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 9 | |||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs3806265 | 0.882 | 0.160 | 1 | 247423034 | intron variant | T/C | snv | 0.41 | 3 | ||
rs10459953 | 0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv | 3 | |||
rs11697325 | 1.000 | 0.040 | 20 | 46000706 | regulatory region variant | G/A;C | snv | 1 | |||
rs376671742 | 1.000 | 0.040 | 6 | 52238749 | missense variant | T/A;G | snv | 1 | |||
rs1060822 | 1.000 | 0.040 | 17 | 27765605 | synonymous variant | A/G | snv | 0.66 | 0.68 | 1 | |
rs1805193 | 1.000 | 0.040 | 1 | 169733631 | 5 prime UTR variant | C/A | snv | 8.3E-02 | 7.8E-02 | 1 |