Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557036768 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 44 | |||
rs1563183492 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 32 | |||
rs121908120 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 19 | |
rs147680216 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 11 | |
rs121908119 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 10 | |
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 9 | |||
rs35822372 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 8 | |||
rs55846652 | 0.776 | 0.160 | X | 69564858 | downstream gene variant | T/C | snv | 0.29 | 8 | ||
rs917412 | 0.776 | 0.160 | 4 | 108350621 | TF binding site variant | C/T | snv | 0.21 | 8 | ||
rs2034604 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 8 | |||
rs4498834 | 0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 | 8 | ||
rs35956082 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 8 | |||
rs758468472 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 8 | |||
rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
rs730882193 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 6 | |||
rs775141057 | 0.882 | 0.120 | 12 | 106496115 | missense variant | C/A;T | snv | 4.0E-06 | 2.1E-05 | 6 | |
rs4904210 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 5 | |
rs929387 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 4 | ||
rs1553763618 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 4 | |||
rs782661984 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 4 | |
rs377467108 | 0.882 | 0.120 | 7 | 148827254 | missense variant | C/A;T | snv | 6.4E-05 | 3 | ||
rs374910216 | 0.882 | 0.080 | 2 | 218882358 | missense variant | G/A | snv | 2.4E-05 | 3 | ||
rs28933971 | 0.882 | 0.080 | 14 | 36662975 | missense variant | G/A;C | snv | 3 | |||
rs750190755 | 0.882 | 0.080 | 2 | 218893087 | missense variant | C/T | snv | 4.1E-05 | 7.0E-06 | 3 | |
rs1567755946 | 0.925 | 0.080 | 17 | 65537563 | frameshift variant | -/CGCGGGAGGCAGC | delins | 2 |