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 | 1 | 89839786 | intron variant | G/A | snv | 1.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.925 | 0.080 | 3 | 70879779 | intergenic variant | A/C;G | snv | 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 | ||||
|
7 | 0.827 | 0.120 | 6 | 52240759 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
21 | 0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.080 | 9 | 93953746 | intron 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 | |||||
|
8 | 0.827 | 0.080 | 16 | 86430089 | downstream gene variant | T/C | snv | 0.31 | 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 | 19 | 18692362 | intron variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2013 | 2013 |