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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.070 | 1.000 | 7 | 2010 | 2019 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 131956291 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 88595498 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 1.000 | 10 | 1999 | 2015 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2003 | 2006 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
14 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 10284771 | intron variant | G/A | snv | 7.8E-03 | 3.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 1.000 | 11 | 2010 | 2019 |