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 | 0.080 | 7 | 76303817 | missense variant | G/A;T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 5 | 2004 | 2014 | |||
|
1 | 1.000 | 0.080 | 8 | 26864491 | missense variant | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 74361935 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 6 | 44307303 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 65132333 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 40397262 | stop gained | G/A | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 17 | 15259155 | frameshift variant | C/- | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 149038339 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 19 | 10797424 | missense variant | A/G | snv | 1.1E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 161306116 | missense variant | C/G;T | snv | 9.5E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 22 | 30940006 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 62814078 | missense variant | G/A;T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 8 | 1882687 | missense variant | G/A;C | snv | 1.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 101985925 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 8 | 24955877 | missense variant | G/A;C | snv | 4.1E-06; 7.2E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 17 | 37274293 | missense variant | C/T | snv | 2.3E-04 | 9.3E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.080 | 5 | 149028348 | stop gained | C/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 161307356 | frameshift variant | GGGAGCCC/- | delins | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 12117722 | missense variant | C/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 15 | 89329040 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 17 | 15239509 | frameshift variant | C/-;CC | delins | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 8 | 74361900 | frameshift variant | A/- | del | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | X | 71223757 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 70254688 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 68938355 | splice donor variant | G/T | snv | 2.1E-05 | 0.700 | 0 |