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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.710 | 1.000 | 11 | 2001 | 2018 | ||||
|
3 | 0.882 | 0.120 | 9 | 131522113 | missense variant | C/T | snv | 6.0E-05 | 2.8E-05 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.160 | 19 | 46756814 | missense variant | C/A;T | snv | 4.5E-06 | 0.700 | 1.000 | 7 | 2004 | 2014 | ||||
|
4 | 0.851 | 0.120 | 9 | 131523025 | frameshift variant | -/G | delins | 2.1E-04 | 0.700 | 1.000 | 6 | 2002 | 2014 | ||||
|
2 | 0.925 | 0.160 | 19 | 46755716 | missense variant | C/T | snv | 1.5E-05 | 0.700 | 1.000 | 6 | 2005 | 2009 | ||||
|
3 | 0.882 | 0.160 | 19 | 46756369 | missense variant | T/A | snv | 6.3E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 2003 | 2008 | |||
|
3 | 0.882 | 0.120 | 9 | 131522160 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 2006 | 2012 | ||||
|
3 | 0.882 | 0.160 | 9 | 105620050 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 5 | 2007 | 2016 | |||||
|
2 | 0.925 | 0.120 | 9 | 105619989 | frameshift variant | T/- | delins | 2.0E-05 | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||
|
2 | 0.925 | 0.160 | 19 | 46756586 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 5 | 2001 | 2015 | |||||
|
3 | 0.882 | 0.120 | 9 | 131509809 | splice donor variant | G/C;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2012 | |||
|
2 | 1.000 | 0.120 | 19 | 46756604 | stop gained | C/A;G;T | snv | 4.1E-06; 1.7E-04 | 0.700 | 1.000 | 4 | 2001 | 2004 | ||||
|
2 | 0.925 | 0.120 | 9 | 105596631 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2015 | |||
|
1 | 1.000 | 0.120 | 19 | 46755588 | frameshift variant | C/- | delins | 0.700 | 1.000 | 4 | 2001 | 2012 | |||||
|
1 | 1.000 | 0.120 | 19 | 46756525 | frameshift variant | -/GG | delins | 0.700 | 1.000 | 4 | 2005 | 2017 | |||||
|
2 | 0.925 | 0.160 | 19 | 46756348 | missense variant | G/A | snv | 3.2E-05 | 3.1E-04 | 0.700 | 1.000 | 4 | 2003 | 2017 | |||
|
2 | 0.925 | 0.160 | 19 | 46756349 | missense variant | T/C | snv | 6.4E-06 | 4.2E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | |||
|
2 | 0.925 | 0.120 | 9 | 105620001 | missense variant | A/G | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2001 | 2012 | |||
|
3 | 0.882 | 0.120 | 9 | 131512039 | splice acceptor variant | A/C;T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
3 | 0.882 | 0.120 | 9 | 131515524 | splice donor variant | T/C | snv | 0.700 | 1.000 | 3 | 2002 | 2006 | |||||
|
1 | 1.000 | 0.120 | 19 | 46756273 | missense variant | C/T | snv | 1.7E-05 | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||
|
3 | 0.882 | 0.120 | 9 | 131515445 | frameshift variant | CT/- | del | 0.700 | 1.000 | 2 | 2007 | 2008 | |||||
|
3 | 0.882 | 0.120 | 9 | 131513243 | stop gained | C/G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 2 | 2002 | 2016 | ||||
|
2 | 0.925 | 0.120 | 9 | 105617967 | stop gained | C/G;T | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||
|
6 | 0.827 | 0.160 | 19 | 46755995 | missense variant | A/G;T | snv | 8.2E-05; 6.8E-06 | 0.700 | 1.000 | 2 | 2016 | 2018 |