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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 10 | 97584820 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 10 | 97601952 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 10 | 97584911 | stop gained | C/T | snv | 4.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 10 | 97599094 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 10 | 97601919 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 | 0.800 | 1.000 | 5 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.160 | 10 | 97584810 | missense variant | C/A;T | snv | 1.2E-05; 1.7E-04 | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.160 | 10 | 97611582 | missense variant | C/T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.160 | 10 | 97584912 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 10 | 97601925 | missense variant | T/G | snv | 6.4E-05 | 3.5E-05 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.160 | 10 | 97601889 | missense variant | G/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 10 | 97611514 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 10 | 97611648 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 10 | 97601884 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 10 | 97611550 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 10 | 97598790 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 10 | 97598871 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 10 | 97599744 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 10 | 97598894 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 10 | 97584837 | missense variant | C/G;T | snv | 2.0E-05; 1.3E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97601991 | splice donor variant | G/A;T | snv | 4.1E-06; 6.6E-05 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.160 | 10 | 97601990 | splice donor variant | GG/TT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 97600165 | splice donor variant | T/A;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 10 | 97584826 | frameshift variant | T/- | del | 3.2E-05 | 1.4E-05 | 0.700 | 0 |