| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 6 | 2010 | 2019 | |||||||||||
|
15 | 58431280 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
16 | 67894139 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
15 | 58434545 | intron variant | G/C | snv | 0.73 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.800 | 1.000 | 5 | 2010 | 2018 | |||||||||||
|
12 | 123311691 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
9 | 15305380 | intron variant | G/C | snv | 0.72 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
2 | 164684290 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
22 | 21577779 | intron variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
11 | 46721697 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
19 | 54288907 | intergenic variant | C/A;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
17 | 78407903 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
12 | 123975620 | intron variant | G/T | snv | 0.33 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
6 | 139508529 | intron variant | C/T | snv | 0.53 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
5 | 54002195 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
18 | 49634583 | intergenic variant | G/A;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
12 | 124777047 | 3 prime UTR variant | C/T | snv | 0.55 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
11 | 117014073 | intron variant | G/A | snv | 3.1E-02 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||||
|
11 | 54607190 | upstream gene variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
16 | 56978467 | intron variant | T/G | snv | 0.36 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
18 | 60181790 | intergenic variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2010 | 2016 |