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 | |||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs5355 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 14 | |
rs536289169 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 13 | ||
rs374603772 | 0.776 | 0.160 | 1 | 55058630 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 9 | |
rs28362261 | 0.851 | 0.160 | 1 | 55058129 | missense variant | A/G | snv | 1.2E-03 | 4.8E-03 | 6 | |
rs371237692 | 0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs771479424 | 0.882 | 0.120 | 1 | 55052764 | stop gained | A/G;T | snv | 1.2E-05 | 3 | ||
rs367650109 | 1.000 | 0.080 | 1 | 186675959 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs12998782 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 3 | ||
rs4675095 | 1.000 | 0.080 | 2 | 226787251 | intron variant | A/T | snv | 5.3E-02 | 1 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 | |
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs74577862 | 0.882 | 0.080 | 3 | 186843903 | intron variant | G/A | snv | 1.8E-02 | 3 | ||
rs757818668 | 0.925 | 0.120 | 3 | 157442729 | missense variant | G/A | snv | 1.2E-05 | 2 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs4754 | 0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 | 12 | ||
rs7439293 | 0.807 | 0.080 | 4 | 168756335 | non coding transcript exon variant | G/A | snv | 0.44 | 6 | ||
rs28357094 | 0.882 | 0.160 | 4 | 87975645 | non coding transcript exon variant | T/G | snv | 0.17 | 3 |