| 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 | ||||||||||
|
1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
11 | 54607190 | upstream gene variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
4 | 102276925 | intron variant | A/G | snv | 5.1E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
1 | 220796686 | missense variant | A/G | snv | 0.75 | 0.78 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
8 | 19961928 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
7 | 6409641 | 3 prime UTR variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
16 | 56959974 | upstream gene variant | A/G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
4 | 26061368 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
19 | 11232027 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1 | 182199750 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1.000 | 0.080 | 11 | 61811991 | intron variant | A/G | snv | 0.40 | 0.28 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
8 | 9323885 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
12 | 109512339 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 104832083 | intron variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
4 | 99093654 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
11 | 10367235 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2010 | 2013 |