Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs984967571 | 0.925 | 0.160 | 7 | 107672200 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs121908365 | 0.925 | 0.160 | 7 | 107672230 | missense variant | T/A;C | snv | 2 | |||
rs1554354382 | 1.000 | 0.160 | 7 | 107672242 | missense variant | T/C | snv | 1 | |||
rs111033199 | 0.882 | 0.160 | 7 | 107672245 | missense variant | G/A;C;T | snv | 1.8E-04; 4.0E-06 | 3 | ||
rs1057516988 | 1.000 | 0.160 | 7 | 107674163 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
rs760413427 | 0.925 | 0.160 | 7 | 107674187 | missense variant | A/G | snv | 8.0E-06 | 2 | ||
rs1554354787 | 0.925 | 0.160 | 7 | 107674188 | missense variant | T/C | snv | 2 | |||
rs1554354801 | 1.000 | 0.160 | 7 | 107674202 | frameshift variant | G/- | del | 1 | |||
rs542620119 | 0.925 | 0.160 | 7 | 107674302 | missense variant | G/C | snv | 9.1E-05 | 3.5E-05 | 2 | |
rs1205712508 | 1.000 | 0.160 | 7 | 107674311 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs111033348 | 0.925 | 0.160 | 7 | 107674326 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 3 | |
rs1057516881 | 1.000 | 0.160 | 7 | 107674350 | splice donor variant | T/A | snv | 1 | |||
rs1057516678 | 1.000 | 0.160 | 7 | 107674963 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs111033303 | 0.925 | 0.160 | 7 | 107674970 | missense variant | G/T | snv | 3.0E-04 | 3.8E-04 | 2 | |
rs111033242 | 0.925 | 0.160 | 7 | 107675050 | missense variant | C/G | snv | 4.8E-05 | 3 | ||
rs80338848 | 0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 | 6 | |
rs111033256 | 0.882 | 0.160 | 7 | 107675060 | missense variant | T/A | snv | 2.0E-04 | 3.5E-05 | 3 | |
rs918684449 | 1.000 | 0.160 | 7 | 107675077 | frameshift variant | A/- | delins | 1.2E-05 | 1.4E-05 | 1 | |
rs756076960 | 1.000 | 0.160 | 7 | 107675107 | splice donor variant | TGTA/- | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs1057517246 | 1.000 | 0.160 | 7 | 107683290 | frameshift variant | GGAATTAA/- | delins | 1 | |||
rs786204600 | 1.000 | 0.160 | 7 | 107683324 | frameshift variant | C/- | delins | 1 | |||
rs768245266 | 1.000 | 0.160 | 7 | 107683351 | frameshift variant | -/G | delins | 1.2E-05 | 1 | ||
rs111033245 | 1.000 | 0.160 | 7 | 107683355 | splice donor variant | G/T | snv | 1 | |||
rs912147281 | 0.925 | 0.160 | 7 | 107683356 | splice donor variant | T/C | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs1554357206 | 1.000 | 0.160 | 7 | 107683434 | splice acceptor variant | ATCTTTTGTTTTATTTCAGACGATAATTGCTAC/- | delins | 1 |