Source: ALL
| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 3 | 70972607 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 1.000 | 3 | 70977678 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 1.000 | 3 | 70972667 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 1.000 | 3 | 70977859 | stop gained | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.120 | 3 | 70972666 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 3 | 70977935 | frameshift variant | AG/- | del | 0.700 | 0 | |||||||||
|
13 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 70977721 | splice acceptor variant | GCTGAAT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70977677 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 71001061 | splice acceptor variant | T/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 71046984 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 71047000 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70970807 | splice acceptor variant | T/A | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 3 | 70972577 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70977045 | splice region variant | GTGAAGCAGAA/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70977884 | frameshift variant | TG/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70978031 | splice acceptor variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70987993 | splice donor variant | C/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 71198338 | missense variant | G/A | snv | 2.4E-04 | 1.5E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 71041327 | splice donor variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70977908 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 70976964 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 |