Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519053 | 1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del | 2 | |||
rs1057519054 | 1.000 | 0.120 | 18 | 53386061 | missense variant | T/G | snv | 2 | |||
rs1057519055 | 1.000 | 0.120 | 18 | 53386097 | missense variant | G/A | snv | 2 | |||
rs1057519056 | 1.000 | 0.120 | 18 | 53207746 | missense variant | G/A;C | snv | 2 | |||
rs1057519057 | 1.000 | 0.120 | 18 | 53391876 | missense variant | G/A | snv | 2 | |||
rs199651452 | 1.000 | 0.120 | 18 | 53339775 | missense variant | A/T | snv | 4.0E-06 | 2 | ||
rs775565634 | 1.000 | 0.120 | 18 | 53339808 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 2 | |
rs11893842 | 0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 | 2 | ||
rs1569459580 | 1.000 | 0.120 | X | 111196503 | missense variant | G/A | snv | 2 | |||
rs782785654 | 1.000 | 0.120 | X | 155524537 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 2 | |
rs1563183469 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 3 | |||
rs1558519119 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 3 | |||
rs750610248 | 0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 | 3 | ||
rs754914260 | 0.925 | 0.120 | 18 | 52923832 | stop gained | C/A;T | snv | 4.0E-06 | 3 | ||
rs1057523157 | 0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv | 3 | |||
rs199590018 | 0.925 | 0.120 | X | 49193294 | missense variant | G/A | snv | 1.4E-04 | 7.5E-05 | 3 | |
rs587780072 | 0.882 | 0.240 | 17 | 7674927 | missense variant | G/A;C | snv | 2.8E-05 | 3 | ||
rs1057517858 | 0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv | 3 | |||
rs1565627707 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 3 | |||
rs387907252 | 0.882 | 0.160 | 10 | 117134559 | missense variant | G/T | snv | 3 | |||
rs1563406024 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 4 | |||
rs797045005 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 4 | |||
rs1057518951 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 5 | |||
rs797045277 | 0.882 | 0.280 | 6 | 157198907 | splice region variant | G/A | snv | 5 | |||
rs1555682265 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 5 |