Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
15 | 89335895 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
15 | 89320697 | intron variant | T/G | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 |
|
0.800 | 1.000 | 20 | 2002 | 2014 | |||||||
|
0.925 | 0.080 | 15 | 89321007 | missense variant | T/C;G | snv | 1.1E-04 |
|
0.800 | 1.000 | 20 | 2004 | 2017 | ||||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.840 | 1.000 | 17 | 2001 | 2016 | |||||||
|
0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 |
|
0.830 | 1.000 | 16 | 2004 | 2014 | |||||||
|
0.827 | 0.080 | 15 | 89330184 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 12 | 2002 | 2014 | |||||||
|
0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 12 | 2003 | 2014 | |||||||
|
0.807 | 0.240 | 15 | 89321780 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 |
|
0.700 | 1.000 | 9 | 2006 | 2012 | |||||||
|
0.807 | 0.240 | 15 | 89318737 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.800 | 1.000 | 9 | 2003 | 2014 | ||||||||
|
0.882 | 0.080 | 15 | 89330106 | missense variant | T/A;C;G | snv | 3.8E-04; 2.0E-05 |
|
0.700 | 1.000 | 7 | 2008 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 89318736 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 |
|
0.800 | 1.000 | 7 | 2004 | 2014 | ||||||||
|
0.882 | 0.200 | 15 | 89321842 | missense variant | T/C | snv | 6.6E-03 | 7.0E-03 |
|
0.700 | 1.000 | 7 | 2004 | 2014 | |||||||
|
0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 |
|
0.700 | 1.000 | 6 | 2006 | 2014 | ||||||||
|
0.882 | 0.200 | 15 | 89322749 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 6 | 2003 | 2011 | |||||||
|
0.882 | 0.080 | 15 | 89330257 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2014 | |||||||
|
1.000 | 0.080 | 15 | 89320850 | stop lost | A/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 5 | 2006 | 2013 | ||||||||
|
1.000 | 0.080 | 15 | 89322748 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 5 | 2003 | 2017 | |||||||||
|
0.925 | 0.080 | 15 | 89317469 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2006 | 2010 | |||||||
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.710 | 1.000 | 4 | 2010 | 2015 | ||||||||
|
0.851 | 0.120 | 15 | 89320857 | missense variant | G/A | snv | 6.8E-04 | 3.4E-04 |
|
0.700 | 1.000 | 3 | 2007 | 2010 | |||||||
|
0.925 | 0.200 | 15 | 89325519 | missense variant | C/T | snv | 3.2E-05 | 7.7E-05 |
|
0.700 | 1.000 | 3 | 2005 | 2007 | |||||||
|
1.000 | 0.080 | 15 | 89321783 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2008 | 2009 |