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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 137711015 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 1997 | 2009 | |||||||||
|
0.882 | 0.080 | 7 | 44147834 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2003 | 2009 | |||||||||
|
0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 3 | 2003 | 2009 | |||||||||
|
0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv |
|
0.700 | 1.000 | 3 | 2003 | 2009 | |||||||||
|
0.882 | 0.080 | 7 | 44147765 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2007 | 2009 | |||||||||
|
0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |