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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs1805094 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 16 | ||
rs2890565 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 15 | |
rs5355 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 14 | |
rs5063 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 12 | |
rs1047303 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 4 | ||
rs1126742 | 0.925 | 0.040 | 1 | 46932824 | missense variant | A/G | snv | 0.17 | 0.20 | 4 | |
rs6203 | 0.851 | 0.120 | 1 | 119514535 | synonymous variant | C/T | snv | 0.45 | 0.35 | 4 | |
rs890293 | 0.851 | 0.200 | 1 | 59926822 | upstream gene variant | C/A | snv | 8.6E-02 | 4 | ||
rs11572325 | 0.925 | 0.080 | 1 | 59896030 | intron variant | A/T | snv | 0.12 | 3 | ||
rs12140311 | 1.000 | 0.040 | 1 | 16052230 | missense variant | A/C;T | snv | 8.0E-06; 9.6E-02 | 3 | ||
rs13306560 | 1.000 | 0.040 | 1 | 11806126 | 5 prime UTR variant | C/T | snv | 3.7E-02 | 3 | ||
rs2280275 | 0.925 | 0.040 | 1 | 59901568 | intron variant | T/C | snv | 0.23 | 3 | ||
rs3890011 | 0.925 | 0.040 | 1 | 46933071 | intron variant | G/C | snv | 0.71 | 0.65 | 3 | |
rs45487298 | 0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins | 3 | |||
rs7536827 | 0.925 | 0.080 | 1 | 146037054 | upstream gene variant | T/A;C;G | snv | 3 | |||
rs1021737 | 0.925 | 0.120 | 1 | 70439117 | missense variant | G/T | snv | 0.28 | 0.24 | 2 | |
rs10803414 | 1.000 | 0.040 | 1 | 16054087 | intron variant | C/T | snv | 0.40 | 2 |