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 | 161356815 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 11 | 2009 | 2018 | ||||||
|
5 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 9 | 2008 | 2017 | |||
|
8 | 0.882 | 0.080 | 1 | 161356832 | stop gained | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 2007 | 2017 | |||
|
4 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2009 | 2016 | ||||
|
3 | 1.000 | 0.080 | 1 | 161314406 | start lost | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 4 | 2005 | 2013 | |||
|
4 | 0.882 | 0.120 | 1 | 161340638 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2016 | |||||
|
7 | 0.827 | 0.160 | 1 | 161356841 | splice donor variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2005 | ||||
|
1 | 1 | 161323612 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1.000 | 0.080 | 1 | 161356812 | missense variant | A/G | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1 | 161328498 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 161356808 | frameshift variant | TATCATACCTGGAATG/- | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.080 | 1 | 161328395 | splice acceptor variant | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 1 | 161314411 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 161340637 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 161356810 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 1 | 161356822 | stop gained | G/A;C | snv | 0.700 | 0 |