Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs5050 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 7 | |||
rs12594 | 0.925 | 0.040 | 1 | 237833787 | 3 prime UTR variant | A/G | snv | 0.28 | 2 | ||
rs16835904 | 0.925 | 0.040 | 1 | 237833954 | 3 prime UTR variant | C/T | snv | 0.17 | 2 | ||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 96 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs9288516 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 6 | ||
rs1040177874 | 0.925 | 0.040 | 2 | 208239914 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs2378456 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs1870377 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 25 | |
rs2305948 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 18 | ||
rs773442580 | 0.851 | 0.080 | 4 | 109913367 | missense variant | T/C;G | snv | 4.0E-06 | 7 | ||
rs2271338 | 0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 | 5 | ||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 29 | |||
rs2431689 | 0.882 | 0.040 | 5 | 160472115 | intron variant | G/A | snv | 0.17 | 3 | ||
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 | |||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs869320694 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 16 | |||
rs779707422 | 0.763 | 0.280 | 8 | 38417331 | missense variant | G/A;T | snv | 4.0E-06 | 12 | ||
rs1057519897 | 0.807 | 0.240 | 8 | 38414788 | missense variant | C/G;T | snv | 4.0E-06 | 6 | ||
rs1057519898 | 0.851 | 0.120 | 8 | 38417333 | missense variant | T/C | snv | 5 | |||
rs1057519899 | 0.851 | 0.120 | 8 | 38417879 | missense variant | T/C | snv | 5 |