| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.800 | 1.000 | 6 | 2011 | 2019 | ||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 26795439 | intron variant | G/A | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 56439852 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1 | 161639782 | intergenic variant | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 1 | 235926855 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 36415228 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
13 | 1 | 212617344 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 1 | 65671509 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
8 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1 | 36482287 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 1 | 36478315 | intron variant | C/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 207860984 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 27859995 | intergenic variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1 | 108200437 | 5 prime UTR variant | G/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 46130565 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 1 | 56440602 | intron variant | G/A | snv | 0.92 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1 | 159205095 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 56158423 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 1 | 45860202 | intron variant | CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA | delins | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1 | 65445924 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 135728087 | downstream gene variant | C/T | snv | 0.97 | 0.700 | 1.000 | 2 | 2019 | 2019 |