Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518775 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 4 | |||
rs79874540 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 4 | |
rs146488435 | 0.851 | 0.080 | 17 | 63533914 | missense variant | C/G;T | snv | 8.0E-06; 6.4E-05 | 5 | ||
rs2920502 | 0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 | 6 | ||
rs121909731 | 0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
rs11171806 | 0.807 | 0.360 | 12 | 56339747 | synonymous variant | G/A | snv | 4.9E-02 | 4.5E-02 | 7 | |
rs1033656351 | 0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 7 | |
rs683369 | 0.807 | 0.360 | 6 | 160130172 | missense variant | G/A;C;T | snv | 4.0E-06; 0.83; 4.0E-06 | 7 | ||
rs1057515572 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 8 | |||
rs628031 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 8 | ||
rs2066808 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 8 | ||
rs587777732 | 0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv | 9 | |||
rs3732581 | 0.790 | 0.120 | 3 | 183840614 | missense variant | C/G;T | snv | 0.46; 1.2E-05 | 9 | ||
rs137852671 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 10 | |||
rs5742612 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 11 | ||
rs10423928 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 12 | ||
rs12970134 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 13 | ||
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs2943641 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 18 | ||
rs1718119 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 21 | ||
rs225014 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 22 | |
rs13266634 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 23 | ||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs11575937 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 29 |