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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
5 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 0.882 | 8 | 64727703 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 20 | 36896959 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 21 | 41380411 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 11 | 32399873 | intron variant | T/C | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 22 | 39083569 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 22 | 39081386 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 0.925 | 6 | 30036275 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 22 | 39081372 | intron variant | C/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 11 | 108040925 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.763 | 0.400 | 6 | 31306603 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
66 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.070 | 0.857 | 7 | 2002 | 2015 | |||
|
5 | 0.851 | 0.160 | 22 | 39081561 | missense variant | A/G | snv | 5.9E-02 | 0.14 | 0.040 | 1.000 | 4 | 2008 | 2018 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2014 | ||||
|
1 | 1.000 | 11 | 5667710 | missense variant | C/T | snv | 0.14 | 0.14 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
221 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
2 | 0.925 | 0.080 | 15 | 63305658 | missense variant | T/A;G | snv | 6.1E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 |