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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 11 | 125389528 | intron variant | A/G | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 2 | 217029040 | intergenic variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 3 | 172550013 | regulatory region variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | 5 | 45285616 | intron variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
21 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 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 | |||||
|
2 | 0.925 | 0.080 | 5 | 133071366 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 |