Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7773456 | 0.925 | 0.160 | 6 | 19823007 | intron variant | T/G | snv | 0.35 | 2 | ||
rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 18 | |
rs292001 | 0.807 | 0.320 | 1 | 22638465 | intron variant | G/A | snv | 0.54 | 6 | ||
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs274068 | 0.925 | 0.160 | 16 | 24887651 | intron variant | C/A | snv | 0.74 | 2 | ||
rs601162 | 0.925 | 0.160 | 9 | 29632144 | upstream gene variant | A/C;G;T | snv | 2 | |||
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs1799964 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 47 | ||
rs114580964 | 1.000 | 0.160 | 6 | 31636736 | missense variant | C/A;T | snv | 3.4E-03 | 1.4E-03 | 1 | |
rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 13 | ||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs2647012 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 7 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs2295415 | 0.882 | 0.160 | 10 | 35212510 | 3 prime UTR variant | A/G | snv | 0.19 | 3 | ||
rs6897932 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 25 | |
rs2157257 | 1.000 | 0.160 | 22 | 36312293 | intron variant | A/G | snv | 0.52 | 1 | ||
rs434082 | 0.925 | 0.160 | 2 | 40257934 | intron variant | C/T | snv | 0.14 | 3 | ||
rs11893826 | 0.925 | 0.160 | 2 | 40337507 | intron variant | G/A | snv | 0.27 | 2 | ||
rs1456896 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 5 | ||
rs8012283 | 0.925 | 0.160 | 14 | 50767442 | intron variant | A/G | snv | 0.23 | 2 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs8193037 | 0.752 | 0.320 | 6 | 52186311 | upstream gene variant | G/A;T | snv | 12 | |||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 |