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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 11 | 16286154 | intron variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 16250132 | intron variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 177304451 | intron variant | G/C;T | snv | 0.78 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 6 | 116943822 | intergenic variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 32099867 | upstream gene variant | C/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 112646431 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 181081388 | intron variant | A/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 23122258 | intergenic variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 116836622 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 96092669 | intron variant | T/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 96092670 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 48089403 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 114754593 | intergenic variant | T/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 45518310 | intron variant | C/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 8 | 81818922 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 27207660 | downstream gene variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 169187008 | upstream gene variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.080 | 21 | 43687681 | missense variant | T/C | snv | 0.69 | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 17 | 61394762 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 3 | 53523985 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 112502439 | intron variant | A/C;T | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 |