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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | X | 154018721 | missense variant | A/T | snv | 5.1E-03 | 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 19 | 54667913 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 6333441 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.120 | 5 | 134194449 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 64093612 | 3 prime UTR variant | G/A | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 161673197 | missense variant | A/T | snv | 2.4E-03 | 4.4E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.240 | 5 | 157109557 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.240 | 6 | 31411200 | missense variant | G/A | snv | 0.34 | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 167430837 | 3 prime UTR variant | T/A | snv | 0.82 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 35196021 | 5 prime UTR variant | T/G | snv | 0.34 | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.200 | 11 | 614864 | synonymous variant | C/T | snv | 0.83 | 0.85 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 11 | 69048055 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 62852354 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 30760633 | upstream gene variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 12 | 8138610 | intron variant | C/T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2015 | 2015 |