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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 10 | 49482818 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 1998 | 2017 | |||||
|
4 | 0.851 | 0.160 | 10 | 49482848 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 5 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.160 | 10 | 49474074 | missense variant | A/G;T | snv | 0.800 | 1.000 | 5 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.160 | 10 | 49482798 | stop gained | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 1998 | 2017 | ||||
|
7 | 0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2008 | 2011 | |||||
|
3 | 0.882 | 0.400 | 10 | 49524421 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2010 | ||||
|
4 | 0.851 | 0.400 | 10 | 49528426 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
3 | 0.882 | 0.400 | 10 | 49470367 | frameshift variant | -/TC | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49474065 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.400 | 10 | 49524295 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.400 | 10 | 49461378 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.160 | 10 | 49473613 | intron variant | T/C;G | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49459235 | splice acceptor variant | C/G | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49483384 | stop gained | G/A;T | snv | 1.6E-05; 1.6E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49530737 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 10 | 49505892 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.160 | 10 | 49500673 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49478353 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49482686 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49474243 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49493117 | frameshift variant | C/TT | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49524032 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49528527 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49530824 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49532705 | frameshift variant | GC/- | delins | 0.700 | 0 |