Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516278 | 1.000 | 0.080 | 1 | 75761289 | frameshift variant | -/G | delins | 1 | |||
rs1057516463 | 1.000 | 0.080 | 1 | 75761221 | frameshift variant | C/- | del | 1 | |||
rs1057516480 | 1.000 | 0.080 | 1 | 75732860 | frameshift variant | T/- | del | 1 | |||
rs1057516485 | 1.000 | 0.080 | 1 | 75761135 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||
rs1057516564 | 1.000 | 0.080 | 1 | 75761125 | stop gained | C/T | snv | 1 | |||
rs1057516778 | 1.000 | 0.080 | 1 | 75724788 | start lost | A/G | snv | 1 | |||
rs1057516801 | 1.000 | 0.080 | 1 | 75732742 | splice donor variant | G/T | snv | 1 | |||
rs1057516983 | 1.000 | 0.080 | 1 | 75733629 | splice donor variant | G/A;T | snv | 1 | |||
rs1057517103 | 1.000 | 0.080 | 1 | 75761131 | frameshift variant | AT/- | delins | 1 | |||
rs1057517179 | 1.000 | 0.080 | 1 | 75732694 | frameshift variant | AG/- | delins | 1 | |||
rs1057517356 | 1.000 | 0.080 | 1 | 75734833 | frameshift variant | AGTA/- | delins | 1 | |||
rs1057517411 | 1.000 | 0.080 | 1 | 75761247 | frameshift variant | A/- | delins | 1 | |||
rs1057518677 | 1.000 | 0.080 | 1 | 75733526 | splice acceptor variant | A/G | snv | 1 | |||
rs113887538 | 1.000 | 0.080 | 1 | 75728489 | splice donor variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs121434274 | 1.000 | 0.080 | 1 | 75749509 | missense variant | G/A | snv | 2.1E-04 | 1.3E-04 | 1 | |
rs121434275 | 1.000 | 0.080 | 1 | 75761300 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs121434276 | 1.000 | 0.080 | 1 | 75749440 | missense variant | T/C | snv | 1 | |||
rs121434277 | 1.000 | 0.080 | 1 | 75734850 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
rs121434279 | 1.000 | 0.080 | 1 | 75740088 | missense variant | A/G | snv | 1 | |||
rs121434280 | 1.000 | 0.080 | 1 | 75732724 | missense variant | T/C | snv | 5.0E-04 | 7.1E-04 | 1 | |
rs121434281 | 1.000 | 0.080 | 1 | 75749444 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs121434282 | 1.000 | 0.080 | 1 | 75749552 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs121434283 | 1.000 | 0.080 | 1 | 75733603 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
rs1215335509 | 1.000 | 0.080 | 1 | 75750514 | stop gained | G/A;T | snv | 1 | |||
rs1225471006 | 1.000 | 0.080 | 1 | 75761173 | stop gained | -/TAGAATGAGTTAC | delins | 3.2E-05 | 2.8E-05 | 1 |