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 | |
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 16 | |
rs763569821 | 0.851 | 0.160 | 1 | 155188197 | missense variant | T/C | snv | 1.2E-05 | 4 | ||
rs3219472 | 0.882 | 0.160 | 1 | 45338378 | 5 prime UTR variant | C/T | snv | 0.26 | 3 | ||
rs3219476 | 0.882 | 0.200 | 1 | 45336998 | intron variant | A/C | snv | 0.58 | 3 | ||
rs11887534 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 29 | ||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs1126579 | 0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 | 8 | ||
rs9679162 | 0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 | 4 | ||
rs1126580 | 0.882 | 0.120 | 2 | 218136243 | 3 prime UTR variant | G/A;T | snv | 3 | |||
rs1194919682 | 0.925 | 0.040 | 2 | 136115158 | missense variant | A/G | snv | 2 | |||
rs2230054 | 0.925 | 0.080 | 2 | 218135587 | synonymous variant | C/T | snv | 0.48 | 0.54 | 2 | |
rs3769839 | 0.925 | 0.080 | 2 | 230211910 | intron variant | T/C | snv | 0.12 | 2 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs3197999 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 16 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 | ||
rs2289278 | 0.827 | 0.200 | 5 | 111073450 | 5 prime UTR variant | C/G | snv | 8.7E-02 | 5 | ||
rs7731017 | 0.925 | 0.080 | 5 | 150732056 | intron variant | T/C | snv | 8.3E-03 | 2 | ||
rs2076310 | 0.925 | 0.080 | 6 | 33198257 | intron variant | A/G | snv | 0.27 | 0.28 | 2 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 |