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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.080 | 3 | 9756823 | missense variant | G/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.080 | 14 | 81143584 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
14 | 0.742 | 0.240 | 11 | 67585239 | missense variant | T/C;G | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.120 | 11 | 67490085 | missense variant | C/G;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.925 | 11 | 67483198 | stop gained | C/T | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 12 | 6537702 | missense variant | A/G | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.851 | 0.160 | 11 | 64804546 | missense variant | T/C | snv | 0.94 | 0.90 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
14 | 0.776 | 0.080 | 20 | 62345988 | intron variant | T/C | snv | 0.56 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
13 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.240 | 20 | 58854075 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 55058628 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |