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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 11 | 2768881 | stop gained | C/G;T | snv | 1.0E-04 | 0.700 | 1.000 | 9 | 1999 | 2015 | ||||
|
4 | 0.851 | 0.120 | 11 | 2570670 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 6 | 1997 | 2013 | |||
|
1 | 1.000 | 0.120 | 19 | 46608846 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2013 | 2016 | |||||
|
10 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2011 | ||||
|
3 | 0.882 | 0.120 | 11 | 2528023 | splice region variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 1999 | 2012 | ||||
|
3 | 0.882 | 0.120 | 11 | 2570638 | frameshift variant | T/- | del | 0.700 | 1.000 | 3 | 2004 | 2009 | |||||
|
1 | 1.000 | 0.120 | 12 | 32796150 | frameshift variant | GGTGTT/TTTC | delins | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 38613757 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 11 | 2527943 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 19 | 46608584 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 47161816 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 38575452 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 46609125 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2572891 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 3 | 38585903 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 7 | 150952508 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.120 | 7 | 150952514 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |