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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.120 | 5 | 1403013 | missense variant | G/A | snv | 5.3E-04 | 5.8E-04 | 0.030 | 1.000 | 3 | 2014 | 2018 | |||
|
8 | 0.790 | 0.160 | 4 | 15848363 | intron variant | G/T | snv | 0.41 | 0.030 | 1.000 | 3 | 2010 | 2012 | ||||
|
5 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2012 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.040 | 21 | 45546266 | intron variant | G/A | snv | 0.34 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.925 | 0.040 | 3 | 8752859 | 3 prime UTR variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.040 | 7 | 27095695 | missense variant | C/A;G;T | snv | 0.76 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
13 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2010 | 2019 | |||||
|
6 | 0.851 | 0.120 | 4 | 4633549 | intron variant | C/A | snv | 0.20 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
7 | 0.807 | 0.240 | 4 | 15824935 | missense variant | C/A;T | snv | 8.0E-06; 4.4E-04 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 8760797 | intron variant | T/C | snv | 0.71 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 8766599 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||
|
4 | 0.882 | 0.120 | 6 | 29666226 | missense variant | G/C | snv | 0.22 | 0.19 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||
|
2 | 0.925 | 0.040 | 7 | 155458738 | missense variant | C/G;T | snv | 0.54 | 0.020 | 1.000 | 2 | 2004 | 2010 | ||||
|
9 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.040 | Y | 1614890 | upstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2008 | 2013 | |||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 1414780 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
1 | 1.000 | 0.040 | Y | 1614999 | upstream gene variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2008 | 2013 | |||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.020 | 1.000 | 2 | 2014 | 2014 |