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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 14 | 1997 | 2016 | |||||
|
3 | 1.000 | 0.120 | 18 | 51065456 | missense variant | A/C;G | snv | 0.800 | 1.000 | 2 | 1998 | 2002 | |||||
|
5 | 0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins | 0.700 | 1.000 | 12 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 18 | 51078354 | frameshift variant | -/A | delins | 0.700 | 1.000 | 11 | 2000 | 2013 | |||||
|
14 | 0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 8 | 1998 | 2016 | |||||
|
6 | 0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.120 | 18 | 51076734 | frameshift variant | -/CCCT | delins | 0.700 | 1.000 | 6 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 51076670 | frameshift variant | AGCAGCAGGCGGCTACTGCACAAGC/- | delins | 0.700 | 1.000 | 5 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 51049326 | splice donor variant | T/C | snv | 0.700 | 1.000 | 3 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 51059916 | splice donor variant | G/- | delins | 0.700 | 1.000 | 3 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 51076637 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 3 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 51067017 | splice acceptor variant | A/C | snv | 0.700 | 1.000 | 3 | 2005 | 2012 | |||||
|
4 | 0.882 | 0.400 | 18 | 51078294 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 18 | 51067188 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 51076778 | splice donor variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.200 | 18 | 51065521 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 1998 | 2002 | |||||
|
1 | 1.000 | 0.120 | 18 | 51048839 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.120 | 18 | 51078334 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 18 | 51076736 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 18 | 51078380 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.120 | 18 | 51049296 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 18 | 51067121 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.120 | 18 | 51065563 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 51067077 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 51048696 | frameshift variant | AAGGA/- | delins | 0.700 | 0 |