Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2298804 | 0.851 | 0.240 | 1 | 159304102 | missense variant | A/G;T | snv | 6.6E-03 | 4 | ||
rs2397084 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 14 | |
rs2647012 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 7 | ||
rs274068 | 0.925 | 0.160 | 16 | 24887651 | intron variant | C/A | snv | 0.74 | 2 | ||
rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 13 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs292001 | 0.807 | 0.320 | 1 | 22638465 | intron variant | G/A | snv | 0.54 | 6 | ||
rs329498 | 0.882 | 0.200 | 2 | 64100410 | synonymous variant | G/A;C;T | snv | 8.0E-06; 0.34 | 3 | ||
rs352139 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 18 | |
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3792192 | 0.925 | 0.160 | 2 | 160030364 | intron variant | G/A | snv | 0.35 | 2 | ||
rs3824662 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 11 | |||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs434082 | 0.925 | 0.160 | 2 | 40257934 | intron variant | C/T | snv | 0.14 | 3 | ||
rs4664308 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 4 | ||
rs4958881 | 0.827 | 0.280 | 5 | 151070675 | intron variant | T/C | snv | 0.21 | 7 | ||
rs4984 | 0.925 | 0.160 | 2 | 70673271 | synonymous variant | G/A | snv | 0.12 | 0.15 | 3 | |
rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 18 | |
rs601162 | 0.925 | 0.160 | 9 | 29632144 | upstream gene variant | A/C;G;T | snv | 2 | |||
rs6056923 | 1.000 | 0.160 | 20 | 9840271 | intron variant | T/C | snv | 0.10 | 1 | ||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs6478109 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 12 | ||
rs6677604 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 7 |