| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
17 | 40000459 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2014 | |||||||||||
|
11 | 103718366 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
20 | 9384656 | intron variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
8 | 80557885 | upstream gene variant | A/C | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
21 | 40803034 | intron variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 11780735 | intron variant | A/G | snv | 4.0E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 132095056 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 8808940 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
7 | 92779056 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
1.000 | 0.080 | 17 | 40010626 | upstream gene variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
2 | 135728087 | downstream gene variant | C/T | snv | 0.97 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 74105479 | intergenic variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 68713254 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113108257 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159712765 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 50621423 | intron variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 50621506 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 63250912 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 88449697 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 7048518 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |