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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 10378834 | 3 prime UTR variant | G/A | snv | 0.33 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 19 | 8977341 | missense variant | T/A;C;G | snv | 2.0E-05; 4.0E-06; 0.74 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.020 | 0.500 | 2 | 2003 | 2015 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.720 | 1.000 | 3 | 2010 | 2016 | |||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
7 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2015 | 2017 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
5 | 0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 | 0.720 | 1.000 | 2 | 2014 | 2017 | ||||
|
6 | 0.807 | 0.160 | 17 | 37736525 | intron variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.120 | 4 | 69591303 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 | 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 | 2013 | 2013 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 3 | 128081228 | 3 prime UTR variant | A/G | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 |