Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs149091175 | 0.925 | 0.080 | 7 | 99863601 | stop gained | C/T | snv | 3.2E-05 | 4.2E-05 | 2 | |
rs757031141 | 1.000 | 0.160 | 8 | 99861828 | frameshift variant | C/- | delins | 4.5E-06 | 1 | ||
rs386834059 | 0.925 | 0.400 | 8 | 99861824 | frameshift variant | -/GGAC | delins | 7.0E-06 | 1 | ||
rs12762549 | 1.000 | 0.040 | 10 | 99861014 | intergenic variant | C/G;T | snv | 1 | |||
rs680055 | 0.851 | 0.120 | 7 | 99859982 | missense variant | C/A;G | snv | 6.5E-02 | 0.13 | 5 | |
rs8187710 | 0.827 | 0.200 | 10 | 99851537 | missense variant | G/A | snv | 5.3E-02 | 8.5E-02 | 6 | |
rs113994126 | 0.882 | 0.080 | 1 | 99851058 | stop gained | C/T | snv | 1.6E-05; 4.4E-05 | 2.8E-05 | 1 | |
rs1194685298 | 1.000 | 0.080 | 3 | 99850556 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs1242982981 | 0.851 | 0.160 | 12 | 9984989 | missense variant | C/T | snv | 4 | |||
rs72558202 | 1.000 | 0.080 | 10 | 99845781 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs3740066 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 20 | ||
rs7583877 | 0.925 | 0.080 | 2 | 99844192 | intron variant | C/T | snv | 0.61 | 2 | ||
rs800672 | 0.925 | 0.080 | 7 | 99838575 | intron variant | G/A | snv | 0.58 | 2 | ||
rs7660895 | 0.882 | 0.200 | 4 | 9983821 | intron variant | A/G;T | snv | 2 | |||
rs17222723 | 0.925 | 0.080 | 10 | 99836239 | missense variant | T/A | snv | 4.5E-02 | 5.5E-02 | 2 | |
rs72558201 | 1.000 | 0.080 | 10 | 99836193 | missense variant | A/G;T | snv | 4.0E-06; 3.6E-05 | 1 | ||
rs72558200 | 1.000 | 0.080 | 10 | 99836125 | missense variant | G/A | snv | 9.1E-05 | 8.4E-05 | 1 | |
rs4148396 | 0.925 | 0.040 | 10 | 99832187 | intron variant | T/C | snv | 0.65 | 2 | ||
rs3740071 | 10 | 99830363 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs1382022101 | 1.000 | 0.040 | 9 | 99828794 | missense variant | C/T | snv | 1 | |||
rs1263282981 | 1.000 | 0.080 | 9 | 99828749 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs2002042 | 1.000 | 0.080 | 10 | 99828174 | intron variant | C/T | snv | 0.27 | 1 | ||
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 4 | |
rs371526758 | 0.925 | 0.040 | 1 | 9982368 | stop gained | G/A | snv | 4.0E-05 | 1.2E-04 | 1 | |
rs1405209 | 1.000 | 0.040 | 9 | 99823263 | intron variant | T/C | snv | 0.33 | 1 |