Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111033243 | 0.827 | 0.400 | 7 | 107689112 | missense variant | T/C | snv | 6.1E-04 | 8.1E-04 | 5 | |
rs111033303 | 0.925 | 0.160 | 7 | 107674970 | missense variant | G/T | snv | 3.0E-04 | 3.8E-04 | 2 | |
rs80338848 | 0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 | 6 | |
rs397516411 | 0.925 | 0.160 | 7 | 107661637 | splice acceptor variant | A/G | snv | 1.2E-04 | 2.7E-04 | 2 | |
rs111033313 | 0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 | 4 | |
rs145254330 | 0.925 | 0.160 | 7 | 107672182 | missense variant | C/T | snv | 3.3E-04 | 1.7E-04 | 2 | |
rs111033244 | 1.000 | 0.160 | 7 | 107690125 | missense variant | A/G | snv | 1.1E-04 | 1.5E-04 | 1 | |
rs111033307 | 0.851 | 0.240 | 7 | 107694473 | missense variant | T/G | snv | 1.0E-04 | 7.7E-05 | 6 | |
rs111033308 | 0.925 | 0.160 | 7 | 107695984 | missense variant | G/A;C | snv | 2.0E-05 | 6.3E-05 | 2 | |
rs111033316 | 1.000 | 0.160 | 7 | 107696036 | missense variant | A/G | snv | 5.6E-05 | 6.3E-05 | 1 | |
rs397516421 | 1.000 | 0.160 | 7 | 107701101 | missense variant | G/A | snv | 4.0E-05 | 5.6E-05 | 1 | |
rs111033256 | 0.882 | 0.160 | 7 | 107675060 | missense variant | T/A | snv | 2.0E-04 | 3.5E-05 | 3 | |
rs542620119 | 0.925 | 0.160 | 7 | 107674302 | missense variant | G/C | snv | 9.1E-05 | 3.5E-05 | 2 | |
rs786204421 | 1.000 | 0.160 | 7 | 107663410 | frameshift variant | T/- | del | 4.0E-06 | 3.5E-05 | 1 | |
rs121908362 | 0.882 | 0.280 | 7 | 107710132 | missense variant | A/G | snv | 1.2E-04 | 3.5E-05 | 5 | |
rs727503430 | 0.925 | 0.160 | 7 | 107704386 | splice donor variant | G/A | snv | 1.3E-05 | 2.8E-05 | 2 | |
rs111033306 | 1.000 | 0.160 | 7 | 107694419 | inframe deletion | TGC/- | delins | 2.8E-05 | 1 | ||
rs121908363 | 0.925 | 0.160 | 7 | 107710126 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 4 | |
rs757820624 | 0.925 | 0.160 | 7 | 107710135 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 | 2 | |
rs747076316 | 0.925 | 0.160 | 7 | 107694622 | stop gained | C/A;G;T | snv | 2.0E-05 | 2.1E-05 | 3 | |
rs768471577 | 0.925 | 0.160 | 7 | 107694476 | missense variant | A/G | snv | 7.6E-05 | 2.1E-05 | 2 | |
rs111033254 | 1.000 | 0.160 | 7 | 107698085 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 1 | |
rs1057516634 | 1.000 | 0.160 | 7 | 107661696 | frameshift variant | A/- | del | 2.1E-05 | 1 | ||
rs918684449 | 1.000 | 0.160 | 7 | 107675077 | frameshift variant | A/- | delins | 1.2E-05 | 1.4E-05 | 1 | |
rs111033257 | 0.925 | 0.160 | 7 | 107700162 | missense variant | G/A | snv | 1.4E-05 | 2 |