Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs139016349 | 1.000 | 0.040 | 3 | 138380319 | intron variant | -/CTT | delins | 0.21 | 1 | ||
rs3045215 | 0.882 | 0.040 | 1 | 234605171 | 3 prime UTR variant | -/GTTACAATA;GTTATAATA | delins | 3 | |||
rs3217713 | 1.000 | 0.040 | 3 | 101857185 | splice region variant | -/TTCTAGAAAGCTTTAATAACCAC;TTTTAGAAAGCTTTAATAACCAC;TTTTTAGAAAGCTTTAATAACCAC | delins | 0.81 | 1 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs34091558 | 1.000 | 0.040 | 1 | 201917642 | intron variant | A/- | delins | 0.25 | 2 | ||
rs528732638 | 0.851 | 0.120 | 18 | 26940224 | intron variant | A/-;AA;AAA;AAAA | delins | 5 | |||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs2239704 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 17 | ||
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs2650000 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 10 | ||
rs12440045 | 0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 | 6 | ||
rs3761581 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 5 | ||
rs7248488 | 0.851 | 0.160 | 19 | 22005907 | intron variant | A/C | snv | 0.59 | 5 | ||
rs4919686 | 0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 4 | |
rs585967 | 1.000 | 0.040 | 2 | 21047682 | upstream gene variant | A/C | snv | 0.81 | 4 | ||
rs606452 | 1.000 | 0.040 | 11 | 75565133 | intron variant | A/C | snv | 0.78 | 4 | ||
rs8089 | 0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 | 4 | ||
rs8103163 | 0.882 | 0.120 | 19 | 21991950 | intron variant | A/C | snv | 0.59 | 4 | ||
rs12115090 | 0.882 | 0.040 | 8 | 75012585 | intron variant | A/C | snv | 0.33 | 0.44 | 3 | |
rs55791371 | 0.925 | 0.080 | 19 | 11077477 | intron variant | A/C | snv | 0.11 | 3 | ||
rs9515201 | 0.925 | 0.080 | 13 | 110388451 | intron variant | A/C | snv | 0.63 | 3 | ||
rs11072811 | 1.000 | 0.040 | 15 | 78839988 | intron variant | A/C | snv | 0.51 | 2 |