| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 75533848 | 3 prime UTR variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 6 | 2015 | 2018 | ||||||||||
|
14 | 29267632 | non coding transcript exon variant | C/A | snv | 0.27 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
6 | 162612318 | intron variant | A/G | snv | 8.7E-02 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
0.925 | 0.080 | 3 | 141556594 | intron variant | G/T | snv | 6.7E-02 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||
|
8 | 80463222 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
6 | 40380914 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 6 | 2015 | 2019 | |||||||||||
|
6 | 12124622 | missense variant | G/A | snv | 0.30 | 0.26 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 33818627 | downstream gene variant | A/G | snv | 0.70 |
|
0.700 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
11 | 47508395 | intron variant | C/A | snv | 0.36 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
1.000 | 0.080 | 14 | 79433111 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||
|
2 | 212548507 | regulatory region variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.700 | 1.000 | 6 | 2007 | 2019 | ||||||||
|
1 | 190270777 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 115151684 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 5 | 2015 | 2019 | |||||||||
|
0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2013 | 2019 | |||||||||
|
0.925 | 0.080 | 10 | 100635683 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
19 | 18344015 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
6 | 34595387 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | |||||||
|
7 | 76978826 | non coding transcript exon variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
1.000 | 0.080 | 19 | 45698914 | intron variant | C/T | snv | 0.17 | 0.16 |
|
0.700 | 1.000 | 5 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 3963466 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
16 | 28322090 | 3 prime UTR variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 5 | 2015 | 2018 |