| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 158392616 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 32832368 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 132373185 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 62258054 | regulatory region variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 75742606 | intergenic variant | T/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 140848521 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 8515975 | intergenic variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 81937217 | intergenic variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 19831845 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 100028412 | intron variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 33581462 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 223171819 | intron variant | C/A;G;T | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 19508931 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 181081388 | intron variant | A/T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 72256200 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 24907673 | intron variant | A/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 27207660 | downstream gene variant | G/A | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 27249498 | intron variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 45970501 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 50729988 | intron variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
8 | 55901862 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
20 | 10787163 | intron variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |