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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 0.760 | 1.000 | 9 | 2008 | 2015 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 1.000 | 8 | 2010 | 2015 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.080 | 1.000 | 8 | 2007 | 2014 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.080 | 1.000 | 8 | 2007 | 2014 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.080 | 0.875 | 8 | 2007 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2005 | 2013 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2010 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2010 | 2015 | |||||
|
5 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 0.730 | 0.750 | 4 | 2010 | 2015 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.720 | 1.000 | 4 | 2007 | 2019 | ||||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2003 | 2017 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2009 | 2014 | |||||
|
3 | 0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv | 0.730 | 1.000 | 3 | 2011 | 2014 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
11 | 0.742 | 0.320 | 6 | 43771240 | synonymous variant | C/G;T | snv | 8.5E-06; 0.16 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2017 | 2019 | |||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2004 | 2014 | |||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
15 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 0.020 | 0.500 | 2 | 2011 | 2011 | ||||
|
34 | 0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2006 | 2015 | |||||
|
10 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 0.020 | 1.000 | 2 | 2005 | 2008 |