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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 6 | 51882440 | intron variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 51648115 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 6 | 51659952 | stop gained | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 51659361 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2014 | ||||
|
2 | 0.925 | 0.240 | 6 | 52058349 | stop gained | G/A;C | snv | 6.6E-04; 4.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 52048558 | stop gained | G/A;C | snv | 4.0E-05 | 0.700 | 1.000 | 3 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 6 | 52062655 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2003 | 2015 | |||
|
2 | 1.000 | 0.120 | 6 | 52058355 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.120 | 6 | 52022858 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 51748297 | stop gained | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 3 | 2003 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 51659417 | stop gained | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51632618 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2002 | 2005 | |||||
|
1 | 1.000 | 0.120 | 16 | 2108680 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2001 | 2012 | |||||
|
2 | 0.925 | 0.120 | 6 | 52079920 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2005 | 2016 | |||
|
1 | 1.000 | 0.120 | 6 | 51632706 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2010 | |||
|
1 | 1.000 | 0.120 | 6 | 52055649 | stop gained | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 2 | 2005 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 52058377 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.120 | 16 | 2089927 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51747933 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 6 | 51747898 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 16 | 2104564 | stop gained | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 51619425 | stop gained | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 6 | 52017562 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 6 | 52025393 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 52028253 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |