Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs3740066 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 20 | ||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs4846049 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 11 | |||
rs28934904 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 9 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 9 | |||
rs104894743 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 7 | |||
rs122445108 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 7 | |||
rs118203933 | 0.925 | 0.360 | 8 | 85473779 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
rs121918524 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 6 | |||
rs1555661648 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 6 | |||
rs185645212 | 0.851 | 0.240 | 15 | 89323504 | missense variant | C/A;T | snv | 8.0E-06; 9.7E-04 | 6 | ||
rs5030849 | 0.851 | 0.280 | 12 | 102852875 | missense variant | C/A;G;T | snv | 2.2E-04 | 6 | ||
rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
rs1364926780 | 0.882 | 0.200 | 7 | 87550272 | missense variant | C/T | snv | 5 | |||
rs165656 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 5 | |||
rs45517305 | 0.851 | 0.240 | 16 | 2081646 | stop gained | C/A;T | snv | 5 | |||
rs61748420 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 5 | |||
rs864309503 | 0.882 | 0.200 | 22 | 30941503 | missense variant | G/A | snv | 5 | |||
rs121434613 | 0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv | 4 | |||
rs1404008939 | 0.925 | 0.200 | 7 | 87504324 | missense variant | A/C;G | snv | 4.0E-06 | 4 | ||
rs587776690 | 0.882 | 0.280 | 3 | 142556439 | synonymous variant | T/C | snv | 4 | |||
rs121434614 | 0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv | 3 |