Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs80338758 | 0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv | 12 | |||
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs74315457 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 6 | |
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs63750264 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 17 | |||
rs1059004 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 4 | ||
rs9983925 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 4 | ||||
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 | ||
rs1800014 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 11 | |
rs2074898 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 3 | |||
rs2049161 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 2 | ||||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs63751273 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 42 | |||
rs6354 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 16 | |||
rs63751438 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 16 | |||
rs2066713 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 9 | ||
rs3813034 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 8 | ||
rs4251417 | 0.827 | 0.200 | 17 | 30224840 | intron variant | C/T | snv | 6.8E-02 | 7 | ||
rs7224199 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 7 | ||
rs12936511 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 5 | |
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs72653772 | 0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 | 16 |