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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 39711979 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 17 | 39709435 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 17 | 39723921 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 39708523 | missense variant | G/A;C | snv | 5.0E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 39710388 | missense variant | G/T | snv | 2.0E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 17 | 39687606 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 17 | 39725721 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 17 | 39717388 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.080 | 17 | 39715823 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.925 | 0.080 | 17 | 39710398 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 39710413 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.080 | 17 | 39708351 | missense variant | A/G | snv | 6.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.925 | 0.080 | 17 | 39708379 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 39723321 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 17 | 39723509 | intron variant | G/A;T | snv | 0.61; 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.200 | 17 | 39723335 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
7 | 0.827 | 0.160 | 17 | 39707034 | missense variant | G/A | snv | 3.7E-05 | 4.9E-05 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
13 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 0.030 | 1.000 | 3 | 2017 | 2019 | |||||
|
8 | 0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2017 | 2019 | |||||
|
3 | 0.925 | 0.080 | 17 | 39710347 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2012 | ||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.040 | 0.750 | 4 | 2013 | 2017 | |||
|
9 | 0.827 | 0.120 | 17 | 39726987 | missense variant | G/A | snv | 8.4E-06 | 0.040 | 1.000 | 4 | 2008 | 2017 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.100 | 0.895 | 38 | 2000 | 2018 |