Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199469705 | 0.925 | 0.200 | 19 | 14564841 | missense variant | C/T | snv | 3 | |||
rs61748392 | 0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv | 3 | |||
rs723744 | 0.925 | 0.200 | 18 | 31592513 | intron variant | G/T | snv | 0.38 | 3 | ||
rs878853147 | 0.925 | 0.200 | X | 71169399 | missense variant | C/T | snv | 3 | |||
rs122455132 | 0.925 | 0.200 | X | 74529232 | missense variant | T/C | snv | 2 | |||
rs1427146168 | 1.000 | 0.200 | 9 | 131140671 | stop gained | C/T | snv | 2 | |||
rs1555050158 | 0.925 | 0.200 | 11 | 105926808 | missense variant | A/T | snv | 2 | |||
rs1555050171 | 0.925 | 0.200 | 11 | 105926821 | missense variant | C/G | snv | 2 | |||
rs1555050174 | 0.925 | 0.200 | 11 | 105926824 | missense variant | C/T | snv | 2 | |||
rs1569146649 | 1.000 | 0.200 | 22 | 42211545 | frameshift variant | -/T | delins | 2 | |||
rs225010 | 1.000 | 0.200 | 14 | 80205936 | intron variant | C/T | snv | 0.51 | 2 | ||
rs225012 | 1.000 | 0.200 | 14 | 80204392 | intron variant | A/C;G | snv | 0.51 | 2 | ||
rs255012 | 1.000 | 0.200 | 7 | 41189487 | regulatory region variant | T/A;C | snv | 2 | |||
rs267608402 | 1.000 | 0.200 | X | 154030650 | missense variant | G/A | snv | 2 | |||
rs3758653 | 1.000 | 0.200 | 11 | 636399 | upstream gene variant | T/C | snv | 0.20 | 2 | ||
rs397515486 | 0.925 | 0.200 | X | 153964702 | missense variant | G/A | snv | 2 | |||
rs398123561 | 0.925 | 0.240 | 18 | 55350391 | frameshift variant | CTTT/- | delins | 2 | |||
rs6511901 | 1.000 | 0.200 | 19 | 13916839 | intron variant | C/T | snv | 0.39 | 2 | ||
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 | ||
rs749457448 | 1.000 | 0.200 | X | 70452622 | start lost | A/G | snv | 2 | |||
rs794729221 | 0.925 | 0.240 | 1 | 42929736 | stop gained | G/A | snv | 2 | |||
rs796053290 | 0.925 | 0.280 | X | 135998095 | splice region variant | TTTTA/- | delins | 2 | |||
rs869025287 | 0.925 | 0.200 | 12 | 115969040 | frameshift variant | GCCAATAT/- | delins | 2 | |||
rs878853143 | 0.925 | 0.200 | 9 | 137162209 | missense variant | C/G;T | snv | 2 |