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 | 0.851 | 0.080 | 10 | 79081391 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.080 | 5 | 45285616 | intron variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 46825376 | downstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 9 | 132937614 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 2 | 217029040 | intergenic variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 20 | 54162422 | intron variant | T/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 5 | 142614908 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 5 | 133071366 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 6 | 152005062 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 3 | 172550013 | regulatory region variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 11 | 125389528 | intron variant | A/G | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |