| 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 | 9 | 127502807 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2010 | 2016 | ||||||
|
1 | 1.000 | 9 | 127502829 | frameshift variant | A/- | del | 0.700 | 1.000 | 4 | 2012 | 2017 | ||||||
|
1 | 1.000 | 9 | 127473817 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 9 | 127487695 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 9 | 127479980 | splice donor variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 9 | 127501009 | splice acceptor variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 9 | 127501098 | frameshift variant | TGGAGGTGCAGGC/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 127502795 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | 9 | 127502825 | inframe insertion | -/CCACTGCGCACCTGCCCGCTGTGCCGCCAG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 127501011 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 127495414 | frameshift variant | T/- | del | 7.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 9 | 127502846 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 127502808 | missense variant | G/A | snv | 0.700 | 0 |