Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1194338 | 0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv | 3 | |||
rs1625649 | 0.882 | 0.080 | 10 | 129466667 | upstream gene variant | A/C | snv | 0.61 | 3 | ||
rs3763511 | 0.882 | 0.120 | 8 | 42378340 | upstream gene variant | G/A | snv | 0.24 | 3 | ||
rs10845671 | 0.925 | 0.080 | 12 | 12926708 | upstream gene variant | C/A;T | snv | 2 | |||
rs116896264 | 0.925 | 0.080 | 19 | 38813176 | upstream gene variant | G/T | snv | 9.0E-02 | 2 | ||
rs35514263 | 0.925 | 0.080 | 3 | 142579202 | upstream gene variant | C/G;T | snv | 2 | |||
rs4763903 | 0.925 | 0.080 | 12 | 12927706 | upstream gene variant | G/C | snv | 3.0E-02 | 2 | ||
rs6695837 | 0.925 | 0.080 | 1 | 183022327 | upstream gene variant | T/C | snv | 0.49 | 2 | ||
rs7163702 | 0.925 | 0.080 | 15 | 28460135 | upstream gene variant | C/A | snv | 2 | |||
rs7549819 | 0.925 | 0.080 | 1 | 1165623 | upstream gene variant | C/T | snv | 0.88 | 2 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs11685387 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 9 | ||
rs1245554802 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs34296044 | 0.925 | 0.080 | 1 | 241885371 | frameshift variant | C/- | delins | 3 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs4919510 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 32 | |
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 |