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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 1.000 | 17 | 2004 | 2019 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.667 | 3 | 1999 | 2015 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
19 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2010 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.882 | 0.160 | 11 | 6393301 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 10 | 69368539 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |