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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.851 | 0.160 | 22 | 39081561 | missense variant | A/G | snv | 5.9E-02 | 0.14 | 0.040 | 1.000 | 4 | 2008 | 2018 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 7 | 126684537 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 21 | 41380411 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.827 | 0.080 | 15 | 33613209 | missense variant | A/G | snv | 0.23 | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.882 | 0.080 | 11 | 33436311 | intron variant | A/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 21 | 31133966 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 2 | 109433263 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 11 | 108046360 | synonymous variant | A/G | snv | 0.68 | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 20 | 36896959 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
9 | 0.790 | 0.160 | 7 | 44796715 | 5 prime UTR variant | A/G;T | snv | 0.26; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 6 | 95928822 | intron variant | A/T | snv | 0.95 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 2 | 70875156 | intergenic variant | A/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 6 | 31403294 | intron variant | C/A | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 22 | 39083569 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 2 | 40840846 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
1 | 1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 11 | 5679850 | missense variant | C/A;T | snv | 8.0E-06; 9.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |