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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv | 0.830 | 1.000 | 4 | 2001 | 2010 | |||||
|
2 | 0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 | 0.800 | 1.000 | 3 | 1999 | 2003 | ||||
|
1 | 1.000 | 0.080 | 7 | 100819874 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
4 | 0.851 | 0.080 | 8 | 105419192 | missense variant | A/C;G | snv | 4.0E-06; 2.7E-03 | 0.700 | 1.000 | 2 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 136523014 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
7 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 63042945 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 20 | 10652589 | stop gained | G/A;C;T | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.080 | 8 | 11758366 | missense variant | C/A;G | snv | 5.1E-04; 6.8E-05 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 15 | 58010691 | missense variant | C/A;T | snv | 5.9E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 18869231 | missense variant | C/A;T | snv | 2.1E-04 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 8 | 105802189 | missense variant | A/C;G | snv | 4.9E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 16 | 56858519 | non coding transcript exon variant | G/A;C;T | snv | 4.1E-06; 2.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 105802610 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 20 | 10641566 | missense variant | C/A;T | snv | 1.6E-05; 1.9E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 57992742 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 11749060 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |