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 | 0.790 | 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 | |||||
|
4 | 0.851 | 0.400 | 19 | 45414870 | missense variant | G/A;C | snv | 1.2E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 10 | 49471085 | missense variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.240 | 2 | 127261248 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
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 | 0.240 | 10 | 49482818 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
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 | |||||
|
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 | 19 | 45352223 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.240 | 19 | 45354774 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 19 | 45357295 | missense variant | A/G | 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 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 49524426 | frameshift variant | A/- | del | 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 |