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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.941 | 17 | 2001 | 2017 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 0.500 | 2 | 2009 | 2015 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 1 | 231950407 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.080 | 1 | 7809900 | missense variant | A/G | snv | 5.6E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.925 | 0.080 | 1 | 162115519 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.080 | 1 | 162334048 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.160 | 1 | 203129147 | synonymous variant | T/G | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 1 | 7827519 | missense variant | C/G | snv | 8.7E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 1 | 231741236 | intron variant | G/A | snv | 0.97 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 1 | 206116320 | missense variant | C/G;T | snv | 5.0E-02; 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 1 | 162356033 | intron variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |