Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060503625 | 0.882 | 0.080 | 14 | 95091289 | missense variant | G/A | snv | 3 | |||
rs875989784 | 0.925 | 0.080 | 14 | 95096510 | frameshift variant | AAGA/- | delins | 3 | |||
rs754081635 | 1.000 | 0.040 | 14 | 95113166 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs886037685 | 1.000 | 0.040 | 14 | 95111414 | frameshift variant | CA/- | delins | 2 | |||
rs886037683 | 1.000 | 0.040 | 14 | 95113091 | splice donor variant | C/A;T | snv | 2 | |||
rs886037679 | 1.000 | 0.040 | 14 | 95115746 | frameshift variant | -/CT | ins | 2 | |||
rs886037678 | 1.000 | 0.040 | 14 | 95115787 | frameshift variant | G/- | del | 2 | |||
rs886037672 | 1.000 | 0.040 | 14 | 95116680 | stop gained | G/A | snv | 2 | |||
rs1131691192 | 1.000 | 0.040 | 14 | 95105784 | splice acceptor variant | C/A | snv | 2 | |||
rs886037684 | 1.000 | 0.040 | 14 | 95112226 | stop gained | G/A | snv | 7.0E-06 | 2 | ||
rs886037687 | 1.000 | 0.040 | 14 | 95111329 | stop gained | GC/TT | mnv | 2 | |||
rs886037680 | 1.000 | 0.040 | 14 | 95115691 | frameshift variant | ATTG/- | delins | 2 | |||
rs765059994 | 1.000 | 0.040 | 14 | 95099779 | splice donor variant | C/A;G | snv | 2 | |||
rs875989783 | 1.000 | 0.080 | 14 | 95103345 | splice donor variant | C/T | snv | 2 | |||
rs886037708 | 1.000 | 0.040 | 14 | 95103670 | stop gained | G/A;C;T | snv | 4.0E-06 | 2 | ||
rs886037704 | 0.925 | 0.080 | 14 | 95103856 | stop gained | G/T | snv | 2 | |||
rs34678453 | 1.000 | 0.040 | 14 | 95099856 | frameshift variant | G/-;GG | delins | 2 | |||
rs886037690 | 1.000 | 0.040 | 14 | 95108367 | frameshift variant | -/T | delins | 2 | |||
rs1131691197 | 1.000 | 0.040 | 14 | 95096461 | frameshift variant | -/T | delins | 2 | |||
rs886037692 | 1.000 | 0.040 | 14 | 95107663 | stop gained | C/A | snv | 2 | |||
rs886037733 | 1.000 | 0.040 | 14 | 95126602 | frameshift variant | CTCT/- | delins | 2 | |||
rs878855246 | 1.000 | 0.040 | 14 | 95113106 | stop gained | G/A | snv | 2 | |||
rs886037701 | 1.000 | 0.040 | 14 | 95103871 | frameshift variant | AATTGCTGTAA/T | delins | 2 | |||
rs886037667 | 1.000 | 0.040 | 14 | 95124428 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
rs886037689 | 1.000 | 0.040 | 14 | 95111326 | stop gained | G/T | snv | 2 |