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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 16 | 67777687 | intron variant | C/A | snv | 0.14 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 8 | 70348225 | intron variant | G/A | snv | 9.9E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 18 | 49580782 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1 | 14 | 73783423 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
1 | 12 | 109512339 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 16 | 67983453 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 11 | 47276809 | synonymous variant | G/A | snv | 0.59 | 0.56 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
1 | 16 | 56962023 | missense variant | C/A;G | snv | 1.2E-05; 5.3E-03 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 9 | 15294598 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
1 | 9 | 104827286 | intron variant | C/T | snv | 5.8E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 1 | 39085816 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 11 | 47224846 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
1 | 7 | 6421679 | intron variant | C/G;T | snv | 2.9E-05; 0.21 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 8 | 143221248 | downstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 29502788 | intergenic variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 85333439 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 50280211 | upstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 14830944 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 133131681 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 14 | 65448149 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 149937602 | upstream gene variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7498542 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 123290580 | 3 prime UTR variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 110109220 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 122664700 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 |