Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28904921 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 7 | |
rs587779826 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 5 | ||
rs775248597 | 0.851 | 0.120 | 11 | 108229185 | stop gained | C/G;T | snv | 8.1E-06 | 5 | ||
rs587782652 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 5 | |
rs532480170 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 5 | ||
rs772821016 | 0.882 | 0.320 | 11 | 108244873 | stop gained | C/T | snv | 4.0E-06 | 4 | ||
rs786201675 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 4 | |||
rs17174393 | 0.882 | 0.280 | 11 | 108353881 | splice donor variant | G/A;C;T | snv | 1.6E-05 | 4 | ||
rs770641163 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 4 | ||
rs778031266 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 4 | ||
rs1555119834 | 0.882 | 0.280 | 11 | 108326116 | frameshift variant | -/T | delins | 4 | |||
rs397514577 | 0.882 | 0.280 | 11 | 108317374 | missense variant | C/A | snv | 4.0E-06 | 4 | ||
rs587776547 | 0.882 | 0.320 | 11 | 108331885 | inframe deletion | TAGAATTTC/- | delins | 2.8E-05 | 1.4E-05 | 4 | |
rs587782719 | 0.882 | 0.240 | 11 | 108335080 | missense variant | G/A;C;T | snv | 4.0E-06 | 4 | ||
rs1131691164 | 0.925 | 0.280 | 11 | 108292689 | stop gained | C/T | snv | 8.0E-06 | 4.2E-05 | 3 | |
rs1137887 | 0.925 | 0.280 | 11 | 108256340 | splice region variant | G/A | snv | 4.4E-05 | 2.8E-05 | 3 | |
rs1555069815 | 0.925 | 0.280 | 11 | 108249082 | frameshift variant | T/- | del | 3 | |||
rs1555070980 | 0.925 | 0.280 | 11 | 108250907 | stop gained | T/G | snv | 3 | |||
rs376603775 | 0.925 | 0.280 | 11 | 108304801 | stop gained | C/A;T | snv | 2.0E-05 | 3.5E-05 | 3 | |
rs55861249 | 0.925 | 0.280 | 11 | 108227806 | stop gained | C/A;T | snv | 7.2E-05; 2.0E-05 | 3 | ||
rs587779817 | 0.925 | 0.280 | 11 | 108251026 | frameshift variant | GA/- | delins | 3 | |||
rs587779833 | 0.925 | 0.280 | 11 | 108279578 | stop gained | C/G | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs587779834 | 0.925 | 0.320 | 11 | 108284281 | frameshift variant | G/- | delins | 4.2E-05 | 3 | ||
rs587781558 | 0.925 | 0.280 | 11 | 108271147 | splice donor variant | G/A;C;T | snv | 2.4E-05; 4.0E-06 | 3 | ||
rs587781653 | 0.925 | 0.280 | 11 | 108289737 | frameshift variant | G/- | delins | 3 |