| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 25383919 | intron variant | A/T | snv | 1.00 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 72858742 | intron variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 28861278 | non coding transcript exon variant | A/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 196198232 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 8259502 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100629042 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 42602307 | intergenic variant | T/C | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
11 | 47355976 | intron variant | C/- | del | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 85392969 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 65802932 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 24306517 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 207462 | upstream gene variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 42598868 | intergenic variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 169036909 | intergenic variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 39248566 | intron variant | T/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 37049628 | upstream gene variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 65538180 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
5 | 72905231 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 9748015 | missense variant | C/G | snv | 0.62 | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
12 | 41306962 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 135070962 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2018 |