Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs121434278 | 0.882 | 0.120 | 1 | 75740094 | missense variant | G/A | snv | 4.0E-05 | 7.0E-05 | 3 | |
rs77931234 | 0.925 | 0.120 | 1 | 75761161 | missense variant | A/C;G | snv | 3.3E-03 | 3 | ||
rs875989854 | 0.925 | 0.160 | 1 | 75734798 | missense variant | C/G;T | snv | 8.0E-06 | 2 | ||
rs770273135 | 0.925 | 0.080 | 1 | 75745904 | missense variant | T/A;C | snv | 4.0E-06; 8.0E-06 | 2 | ||
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 | |||
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 |