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 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 1 | 20633841 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 20649062 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 11 | 233109 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 31484309 | missense variant | G/A;T | snv | 5.7E-06; 5.7E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | MT | 14598 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 20638074 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 0.500 | 2 | 2003 | 2010 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.958 | 24 | 2005 | 2020 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.070 | 0.857 | 7 | 2001 | 2019 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2002 | 2017 | |||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.730 | 1.000 | 3 | 2016 | 2018 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.100 | 1.000 | 10 | 2000 | 2019 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2013 | 2016 |