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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2008 | 2008 | |||||
|
6 | 0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
4 | 0.925 | 0.120 | 1 | 39967632 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1 | 160042283 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1 | 212961166 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 3.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
13 | 0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 207325673 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 1 | 22086451 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.925 | 0.200 | 1 | 110603902 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1 | 40301333 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 2 | 138013874 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 2 | 231115305 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 26273656 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 231116063 | intron variant | A/C;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 169170596 | missense variant | C/T | snv | 2.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 2 | 148947018 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 2 | 137970206 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.160 | 2 | 86166521 | missense variant | A/G | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.040 | 2 | 24793223 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |