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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 19 | 18692362 | intron variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 1 | 89839786 | intron variant | G/A | snv | 1.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.827 | 0.080 | 16 | 86430089 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.160 | 15 | 57960908 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 0.080 | 18 | 22074176 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.080 | 3 | 168007561 | downstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.120 | 7 | 114662075 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.790 | 0.240 | 15 | 44715641 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |