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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 21 | 34859485 | missense variant | C/T | snv | 0.800 | 1.000 | 9 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.120 | 21 | 34880568 | missense variant | C/T | snv | 0.800 | 1.000 | 6 | 1999 | 2018 | |||||
|
5 | 0.827 | 0.120 | 21 | 34859486 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.120 | 21 | 34886866 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||
|
1 | 1.000 | 0.120 | 21 | 34880598 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
2 | 1.000 | 0.120 | 21 | 34880665 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2002 | 2013 | |||||
|
1 | 1.000 | 0.120 | 21 | 34799407 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 21 | 34792164 | frameshift variant | -/CG | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 21 | 34886878 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 21 | 34792415 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.120 | 21 | 34859477 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.120 | 21 | 34880714 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 21 | 34880554 | splice region variant | T/- | del | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 21 | 34880616 | frameshift variant | GCTGCGGT/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 21 | 34886842 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 21 | 34886977 | frameshift variant | -/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 21 | 34886880 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 21 | 34887000 | frameshift variant | -/GGCGTCCGGGGCGCCCAGCGGCAACGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 21 | 34792596 | missense variant | T/A;C;G | snv | 4.9E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |