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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 17 | 44349572 | non coding transcript exon variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.040 | 1.000 | 4 | 2013 | 2016 | ||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
6 | 0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 7 | 56019715 | missense variant | C/T | snv | 2.2E-04; 4.0E-06 | 1.9E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.200 | 17 | 45962351 | missense variant | G/A;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.851 | 0.120 | 2 | 79121649 | missense variant | A/G;T | snv | 8.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 20 | 4699336 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.800 | 1.000 | 11 | 2000 | 2019 | ||||
|
6 | 0.827 | 0.160 | 17 | 46018707 | missense variant | G/A | snv | 2.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.760 | 1.000 | 6 | 2000 | 2019 | ||||
|
2 | 0.925 | 0.120 | 12 | 64484311 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 17 | 46024010 | missense variant | G/A;C | snv | 1.2E-05 | 0.820 | 1.000 | 6 | 1999 | 2002 | ||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 9 | 35060823 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.120 | 9 | 36840599 | missense variant | G/A | snv | 1.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.120 | 17 | 45983867 | missense variant | T/A;C | snv | 4.2E-06; 8.5E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 2 | 79121657 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 10 | 13132068 | missense variant | T/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2017 | ||||
|
6 | 0.807 | 0.120 | X | 56565389 | missense variant | C/A;T | snv | 6.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |