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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 11 | 64591825 | missense variant | G/A | snv | 1.8E-04 | 8.4E-05 | 0.810 | 1.000 | 10 | 2004 | 2016 | |||
|
2 | 0.925 | 0.200 | 11 | 64592788 | missense variant | G/A;C | snv | 4.8E-05; 9.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 11 | 64592866 | missense variant | G/A | snv | 1.0E-04 | 4.2E-05 | 0.700 | 1.000 | 7 | 2002 | 2015 | |||
|
1 | 1.000 | 0.200 | 11 | 64593548 | missense variant | C/G;T | snv | 4.8E-05 | 0.800 | 0 | |||||||
|
8 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 0.750 | 1.000 | 12 | 2002 | 2016 | ||||
|
4 | 0.882 | 0.200 | 11 | 64598561 | synonymous variant | G/A | snv | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.200 | 11 | 64598579 | missense variant | G/A;T | snv | 8.4E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.200 | 11 | 64598847 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.200 | 11 | 64599687 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 64599701 | missense variant | G/A;C | snv | 1.2E-05; 8.1E-06 | 0.700 | 1.000 | 7 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.200 | 11 | 64599750 | missense variant | A/T | snv | 1.2E-04 | 4.9E-05 | 0.800 | 1.000 | 7 | 2002 | 2015 | |||
|
2 | 0.925 | 0.200 | 11 | 64599858 | missense variant | T/C;G | snv | 4.0E-06; 8.1E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.200 | 11 | 64600740 | missense variant | C/A;T | snv | 4.1E-06; 1.2E-03 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.200 | 11 | 64600770 | missense variant | G/A;C;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 11 | 64600799 | missense variant | C/A;T | snv | 9.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.200 | 4 | 9890687 | missense variant | G/A;T | snv | 2.1E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.200 | 4 | 9920389 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 4 | 9980627 | missense variant | C/T | snv | 6.1E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |