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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
7 | 0.827 | 0.240 | 17 | 43092418 | missense variant | T/C;G | snv | 0.35 | 0.020 | 1.000 | 2 | 2004 | 2018 | ||||
|
8 | 0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 | 0.020 | 0.500 | 2 | 2007 | 2018 | ||||
|
6 | 0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 | 0.020 | 1.000 | 2 | 1996 | 1998 | |||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.020 | 1.000 | 2 | 1998 | 2011 | ||||
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
10 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2000 | 2005 | ||||
|
2 | 17 | 43095876 | missense variant | C/A;T | snv | 0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||
|
13 | 0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 17 | 43104237 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 0.851 | 0.200 | 17 | 43106456 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.882 | 0.200 | 17 | 43104136 | stop gained | C/A;G;T | snv | 8.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 17 | 43104165 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.200 | 17 | 43057069 | stop gained | C/A;G;T | snv | 4.0E-06; 3.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 17 | 43106457 | frameshift variant | T/-;TT | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.280 | 17 | 43092919 | frameshift variant | G/AA | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.851 | 0.160 | 17 | 43094550 | frameshift variant | GT/- | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 1.000 | 17 | 43094481 | frameshift variant | TC/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 17 | 43057122 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2013 | 2013 |