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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 5 | 112849696 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.200 | Y | 18991654 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | Y | 18991085 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.752 | 0.320 | 7 | 80615623 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 112774082 | intron variant | G/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112723897 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 17 | 65532005 | intron variant | G/A | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.120 | 16 | 325782 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.710 | 1.000 | 16 | 1992 | 2009 | ||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.710 | 1.000 | 12 | 1992 | 2014 | |||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 1.000 | 10 | 1992 | 2016 | |||||
|
10 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1992 | 2011 | |||||
|
3 | 0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1999 | 2009 | |||||
|
10 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.730 | 1.000 | 3 | 2000 | 2016 | |||||
|
2 | 0.925 | 0.120 | 5 | 112775693 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1998 | 2006 | |||||
|
6 | 0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 | 0.720 | 1.000 | 2 | 2000 | 2012 | ||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 1.000 | 2 | 2008 | 2015 | ||||
|
8 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 2000 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 112840425 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2010 | ||||
|
3 | 0.925 | 0.120 | 5 | 112819026 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 2000 | 2005 | |||||
|
13 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |