Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2303380 | 1.000 | 0.040 | 11 | 113329987 | splice region variant | G/A | snv | 0.61 | 0.64 | 2 | |
rs945270 | 0.925 | 0.040 | 14 | 55733755 | intergenic variant | C/G;T | snv | 3 | |||
rs750257282 | 1.000 | 0.040 | 11 | 3038127 | missense variant | C/G;T | snv | 3.2E-05 | 3 | ||
rs2110267 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 3 | ||
rs2161961 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 3 | ||||
rs121918626 | 0.925 | 0.080 | 2 | 166012179 | missense variant | T/G | snv | 3 | |||
rs121908672 | 0.925 | 0.080 | 11 | 68357802 | missense variant | C/T | snv | 3 | |||
rs875989839 | 1.000 | 6 | 165450242 | missense variant | C/G | snv | 3 | ||||
rs5742912 | 0.925 | 0.160 | 12 | 6349184 | missense variant | A/G | snv | 1.9E-02 | 1.7E-02 | 3 | |
rs363043 | 0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 | 3 | ||
rs1800035 | 0.925 | 0.080 | 10 | 111078794 | missense variant | C/G;T | snv | 1.9E-03 | 4 | ||
rs2284411 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 4 | ||
rs104895321 | 0.882 | 0.240 | 12 | 109591301 | missense variant | C/G;T | snv | 1.4E-04 | 4 | ||
rs121908153 | 0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv | 4 | |||
rs6191 | 0.925 | 0.040 | 5 | 143278591 | 3 prime UTR variant | C/A | snv | 0.48 | 4 | ||
rs202151337 | 0.925 | 0.160 | 12 | 51806788 | missense variant | A/G | snv | 4 | |||
rs1057518011 | 1 | 1535766 | missense variant | C/T | snv | 4 | |||||
rs2281997 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 5 | |||
rs1057519866 | 0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv | 5 | |||
rs778899140 | 0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 | 5 | |||
rs397509345 | 0.851 | 0.160 | 12 | 112489093 | missense variant | AG/CC | mnv | 5 | |||
rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
rs606231193 | 0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 6 | |||
rs3745406 | 0.851 | 0.080 | 19 | 53891711 | missense variant | T/A;C | snv | 4.0E-06; 0.41 | 6 | ||
rs397507548 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv | 6 |