| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.200 | 13 | 32399302 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 1 | 45568989 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.320 | 11 | 35139332 | frameshift variant | G/- | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 12 | 57751681 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 9 | 21971119 | missense variant | T/C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 6 | 161350185 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 10 | 129536277 | missense variant | C/A;T | snv | 8.0E-06; 5.2E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 5989944 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 3 | 9754765 | synonymous variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 233682175 | missense variant | T/C;G | snv | 4.0E-06; 1.4E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 4 | 99313834 | missense variant | C/T | snv | 3.7E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 17 | 7673603 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |