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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 0.080 | 1.000 | 8 | 2004 | 2019 | |||||
|
5 | 0.827 | 0.280 | 3 | 114157428 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
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 | |||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2009 | 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 | |||||
|
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 | ||||
|
1 | 1.000 | 0.040 | 3 | 8766599 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||
|
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 | |||||
|
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 | Y | 1614999 | upstream gene variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2008 | 2013 | |||||
|
4 | 0.882 | 0.160 | 22 | 50721505 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||
|
9 | 0.776 | 0.120 | 3 | 7442784 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 7 | 155458802 | missense variant | C/A;G;T | snv | 3.0E-04; 7.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 12 | 48979625 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 2 | 184597314 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | X | 154399844 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 14 | 64225912 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |