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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 6 | 7571554 | stop gained | C/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2015 | |||||||||
|
0.925 | 0.120 | 6 | 7555815 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | |||||||
|
0.925 | 0.120 | 6 | 7555815 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 6 | 7580585 | stop gained | T/C;G | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 7580585 | stop gained | T/C;G | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 7580370 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 6 | 7580370 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 6 | 7568443 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 7577860 | missense variant | T/A;C | snv | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 7565448 | stop gained | C/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
6 | 7572069 | splice donor variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
0.925 | 0.120 | 6 | 7581402 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 6 | 7581402 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 6 | 7575294 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 7569185 | splice acceptor variant | G/T | snv |
|
0.700 | 0 |