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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 10002570 | intron variant | G/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.080 | 6 | 100390522 | missense variant | T/C | snv | 8.0E-06; 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 6 | 100420903 | missense variant | G/A;T | snv | 1.6E-04; 0.18 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 100447299 | missense variant | G/A | snv | 1.6E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 100448367 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 101163271 | stop gained | C/A;G;T | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 102202345 | non coding transcript exon variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
2 | 0.925 | 0.120 | 7 | 102273394 | missense variant | C/G;T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 12 | 102396414 | 3 prime UTR variant | C/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
26 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 2 | 102419429 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 102423413 | intron variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 102452327 | 3 prime UTR variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 0.710 | < 0.001 | 1 | 2009 | 2009 | |||
|
5 | 0.882 | 0.160 | 3 | 10287125 | non coding transcript exon variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 102873034 | missense variant | T/C;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.050 | 1.000 | 5 | 2005 | 2019 |