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 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 0.700 | 1.000 | 18 | 2005 | 2017 | |||
|
2 | 1.000 | 0.200 | 1 | 241497927 | inframe insertion | -/TTT | delins | 1.0E-03; 8.0E-06 | 1.0E-03 | 0.700 | 1.000 | 16 | 1997 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 16 | 2004 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 16 | 2002 | 2015 | ||||
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 0.700 | 1.000 | 15 | 2005 | 2016 | |||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 2002 | 2018 | ||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 1.000 | 13 | 2009 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 13 | 2006 | 2018 | |||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2005 | 2017 | ||||
|
4 | 0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 2002 | 2014 | |||||
|
3 | 0.925 | 0.120 | 1 | 45331220 | stop gained | C/A | snv | 5.2E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 2002 | 2017 | |||
|
5 | 0.882 | 0.080 | 1 | 17028605 | missense variant | C/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 12 | 2008 | 2018 | |||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1995 | 2018 | |||||
|
6 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 0.700 | 1.000 | 11 | 2002 | 2016 | |||||
|
1 | 1 | 161356815 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 11 | 2009 | 2018 | ||||||
|
4 | 0.882 | 0.360 | 1 | 241508643 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 45333472 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 10 | 2003 | 2010 | |||
|
4 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 10 | 2003 | 2017 | |||
|
4 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 0.700 | 1.000 | 10 | 2004 | 2017 | |||
|
3 | 0.925 | 0.120 | 1 | 45331835 | stop gained | G/A | snv | 8.2E-05 | 3.5E-05 | 0.700 | 1.000 | 10 | 2003 | 2017 | |||
|
2 | 1.000 | 0.200 | 1 | 241508644 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 10 | 1997 | 2011 | ||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 10 | 2004 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 9 | 2003 | 2012 | |||
|
5 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 9 | 2008 | 2017 | |||
|
3 | 0.925 | 0.120 | 1 | 45333168 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2003 | 2016 |