Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796053290 | 0.925 | 0.280 | X | 135998095 | splice region variant | TTTTA/- | delins | 2 | |||
rs878853143 | 0.925 | 0.200 | 9 | 137162209 | missense variant | C/G;T | snv | 2 | |||
rs6511901 | 1.000 | 0.200 | 19 | 13916839 | intron variant | C/T | snv | 0.39 | 2 | ||
rs10410239 | 1.000 | 0.200 | 19 | 13919876 | synonymous variant | T/C | snv | 0.27 | 0.38 | 2 | |
rs1301785134 | 0.925 | 0.280 | 3 | 142556117 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs587776690 | 0.882 | 0.280 | 3 | 142556439 | synonymous variant | T/C | snv | 4 | |||
rs199469705 | 0.925 | 0.200 | 19 | 14564841 | missense variant | C/T | snv | 3 | |||
rs397515486 | 0.925 | 0.200 | X | 153964702 | missense variant | G/A | snv | 2 | |||
rs61753016 | 1.000 | 0.200 | X | 154030614 | missense variant | G/A | snv | 6.8E-05 | 3.9E-05 | 2 | |
rs267608383 | 1.000 | 0.200 | X | 154030643 | frameshift variant | TCGGGCTC/- | delins | 5.8E-06 | 2 | ||
rs267608402 | 1.000 | 0.200 | X | 154030650 | missense variant | G/A | snv | 2 | |||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
rs61749735 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 3 | ||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 9 | |||
rs61748420 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 5 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs61748392 | 0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv | 3 | |||
rs28934904 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 9 | |||
rs6530893 | 1.000 | 0.200 | 8 | 15671068 | intron variant | T/C | snv | 0.14 | 2 | ||
rs6994908 | 1.000 | 0.200 | 8 | 15674943 | intron variant | T/C | snv | 0.32 | 2 | ||
rs878853142 | 1.000 | 0.200 | 17 | 17795278 | frameshift variant | GGCAT/- | delins | 1 | |||
rs165656 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 5 | |||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
rs745986648 | 1.000 | 0.200 | 3 | 20174431 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 2 |