Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519825 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 7 | |||
rs1057519826 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 7 | |||
rs140522 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 11 | |||
rs61756766 | 0.776 | 0.320 | 22 | 41925447 | missense variant | G/A | snv | 5.7E-03 | 5.7E-03 | 9 | |
rs131821 | 0.851 | 0.160 | 22 | 50511648 | intron variant | T/-;TT;TTT;TTTT | delins | 4 | |||
rs9611280 | 1.000 | 0.120 | 22 | 40156115 | missense variant | G/A;T | snv | 6.8E-02; 5.1E-06 | 1 | ||
rs9808753 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 17 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs1776948 | 1.000 | 0.120 | 20 | 4950467 | intron variant | G/A;C | snv | 1 | |||
rs6133175 | 1.000 | 0.120 | 20 | 4911113 | intron variant | A/G | snv | 0.28 | 1 | ||
rs8113877 | 1.000 | 0.120 | 20 | 46006406 | upstream gene variant | G/T | snv | 0.55 | 1 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs73005220 | 0.851 | 0.160 | 19 | 16161878 | intron variant | A/G | snv | 3.9E-02 | 4 | ||
rs11083846 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 3 | |
rs11668878 | 0.925 | 0.200 | 19 | 46765116 | intron variant | G/T | snv | 5.1E-02 | 2 | ||
rs7254272 | 0.925 | 0.120 | 19 | 4069121 | upstream gene variant | G/A | snv | 0.31 | 2 | ||
rs874460 | 0.925 | 0.120 | 19 | 46673495 | non coding transcript exon variant | C/A | snv | 0.10 | 2 | ||
rs12953717 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 18 | ||
rs956572 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 11 | ||
rs4987852 | 0.925 | 0.120 | 18 | 63126688 | 3 prime UTR variant | T/C | snv | 5.1E-02 | 3 | ||
rs1036935 | 0.925 | 0.120 | 18 | 50317164 | upstream gene variant | A/G;T | snv | 2 | |||
rs4368253 | 0.925 | 0.120 | 18 | 59955055 | TF binding site variant | T/A;C | snv | 2 |