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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.732 | 0.160 | 21 | 46606442 | upstream gene variant | G/A | snv | 0.50 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
7 | 0.807 | 0.080 | 11 | 113975284 | 5 prime UTR variant | T/C | snv | 0.79 | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.080 | 2 | 75050887 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.827 | 0.080 | 12 | 72018792 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.080 | 12 | 72018714 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.080 | 12 | 72018440 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.080 | 9 | 131190453 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
8 | 0.776 | 0.080 | 5 | 1400949 | missense variant | T/C | snv | 3.1E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
5 | 0.827 | 0.080 | 3 | 37548944 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.280 | 16 | 1079872 | missense variant | C/T | snv | 0.54 | 0.50 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
7 | 0.827 | 0.080 | 12 | 71972526 | missense variant | C/T | snv | 1.2E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.807 | 0.080 | 22 | 50077337 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.080 | 22 | 50079810 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.807 | 0.080 | 1 | 231777927 | intron variant | G/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.080 | 21 | 46597307 | downstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.080 | 16 | 1079441 | synonymous variant | G/A | snv | 1.7E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
9 | 0.790 | 0.120 | 2 | 75137019 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 11 | 113904828 | 5 prime UTR variant | GAG/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
11 | 0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 |