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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.030 | 1.000 | 3 | 2011 | 2013 | ||||
|
8 | 0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.360 | 5 | 1266195 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 6008969 | intron variant | CACCGGAA/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 3 | 37008801 | intron variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47480684 | intron variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47407923 | intron variant | T/G | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
15 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.160 | 2 | 47476399 | stop gained | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 15 | 1997 | 2013 | |||||
|
7 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 0.700 | 1.000 | 14 | 2006 | 2016 | |||||
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.700 | 1.000 | 14 | 1992 | 2016 | |||||
|
5 | 0.882 | 0.200 | 7 | 6002590 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 13 | 1995 | 2016 | |||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 12 | 2002 | 2018 | |||||
|
6 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 2003 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 11 | 2005 | 2016 | ||||
|
7 | 0.882 | 0.280 | 7 | 5986838 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 2005 | 2016 | |||
|
6 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 1998 | 2014 | ||||
|
5 | 0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 8 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.160 | 2 | 47445644 | stop gained | T/C;G | snv | 0.700 | 1.000 | 8 | 1994 | 2005 | |||||
|
4 | 0.925 | 0.160 | 3 | 37001045 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2009 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||
|
5 | 0.882 | 0.200 | 2 | 47800177 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 2004 | 2017 | ||||
|
5 | 0.882 | 0.160 | 3 | 36996686 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1995 | 2010 |