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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 10 | 33198261 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 233750415 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 92580988 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 18 | 43280443 | upstream gene variant | A/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 6 | 77375469 | intergenic variant | A/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123057914 | synonymous variant | A/C;G | snv | 4.1E-06; 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123094779 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 123093392 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
14 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
3 | 0.925 | 0.120 | 16 | 57358821 | missense variant | A/C;T | snv | 0.92 | 0.94 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 5 | 24059742 | intron variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123090950 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 2 | 233745803 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119125638 | intron variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 92580298 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 25872956 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 161544806 | missense variant | A/G | snv | 7.2E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.120 | 16 | 28499524 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 16 | 3074919 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.882 | 0.200 | 12 | 78807293 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 11 | 123047451 | upstream gene variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.827 | 0.240 | 6 | 31273255 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 |