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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.240 | 7 | 107661726 | stop gained | G/C;T | snv | 9.3E-05; 6.2E-06 | 0.800 | 1.000 | 21 | 1997 | 2013 | ||||
|
3 | 0.925 | 0.160 | 7 | 107694622 | stop gained | C/A;G;T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2005 | 2011 | |||
|
3 | 0.925 | 0.160 | 7 | 107704382 | stop gained | C/T | snv | 1.3E-05 | 0.700 | 1.000 | 5 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.160 | 7 | 107663400 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.710 | 1.000 | 4 | 2003 | 2010 | ||||
|
3 | 0.925 | 0.160 | 7 | 107663366 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2009 | 2014 | |||||
|
3 | 0.925 | 0.160 | 7 | 107710192 | stop gained | T/A;C | snv | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.160 | 7 | 107710082 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 0.700 | 1.000 | 3 | 2014 | 2016 | ||||
|
3 | 0.882 | 0.160 | 7 | 107689156 | stop gained | A/G;T | snv | 0.710 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.160 | 7 | 107694475 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2013 | |||
|
1 | 1.000 | 0.160 | 7 | 107701942 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663380 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663301 | stop gained | C/A;G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 107694694 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 107704340 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 107701943 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 7 | 107661709 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 7 | 107701161 | stop gained | A/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 7 | 107674963 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 107661783 | stop gained | G/A;T | snv | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 107710179 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 | 0.800 | 1.000 | 36 | 1997 | 2017 | ||||
|
3 | 0.882 | 0.160 | 7 | 107672245 | missense variant | G/A;C;T | snv | 1.8E-04; 4.0E-06 | 0.810 | 1.000 | 34 | 1997 | 2017 | ||||
|
4 | 0.925 | 0.160 | 7 | 107690200 | missense variant | G/A;C | snv | 1.0E-04; 8.0E-06 | 0.800 | 1.000 | 34 | 1997 | 2014 | ||||
|
4 | 0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 | 0.800 | 1.000 | 29 | 1997 | 2017 | ||||
|
2 | 0.925 | 0.160 | 7 | 107700162 | missense variant | G/A | snv | 1.4E-05 | 0.810 | 1.000 | 28 | 1997 | 2014 |