Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 6 | 7583572 | frameshift variant | A/- | del | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 6 | 7567372 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 7571506 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.120 | 6 | 7580225 | frameshift variant | ATGAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 6 | 7580519 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 7583201 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 7583725 | frameshift variant | G/CT | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 7568551 | inframe deletion | ATT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 6 | 7585226 | missense variant | C/G | snv | 5.2E-05 | 4.9E-05 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 6 | 7580562 | stop gained | C/A;G;T | snv | 8.0E-06; 1.7E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.080 | 6 | 7568443 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.120 | 6 | 7562753 | stop gained | G/A | snv | 0.700 | 0 |