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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 9 | 95516820 | start lost | T/C;G | snv | 8.4E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.160 | 9 | 95485815 | start lost | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 9 | 95453587 | missense variant | T/A;G | snv | 0.700 | 1.000 | 5 | 1996 | 2004 | |||||
|
3 | 0.882 | 0.160 | 10 | 102599545 | splice donor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2011 | 2014 | |||||
|
2 | 0.925 | 0.160 | 10 | 102509168 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
2 | 0.925 | 0.160 | 10 | 102550107 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
3 | 0.925 | 0.200 | 9 | 95449891 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.240 | 9 | 95485696 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.160 | 12 | 57470802 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 10 | 102592711 | frameshift variant | -/TA | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 1 | 44829444 | frameshift variant | GA/- | delins | 6.3E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 10 | 102615266 | splice acceptor variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102549993 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102550088 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 10 | 102597223 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102504322 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 9 | 95468757 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102504327 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102597207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102597278 | frameshift variant | -/TGTGT | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 9 | 95476760 | frameshift variant | AAAAGGGATTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 95453533 | missense variant | A/G | snv | 0.800 | 1.000 | 8 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 44827617 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.800 | 1.000 | 5 | 2004 | 2015 | |||
|
1 | 1.000 | 0.160 | 9 | 95476835 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2013 |