| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 39954436 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 9 | 4763176 | downstream gene variant | T/C | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
6 | 135106679 | upstream gene variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||||
|
7 | 92779056 | intron variant | C/T | snv | 0.14 |
|
0.800 | 1.000 | 7 | 2010 | 2019 | ||||||||||
|
17 | 39987295 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
12 | 68567804 | intergenic variant | C/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
17 | 40000459 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||||||
|
6 | 31274397 | intron variant | G/A | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1 | 161976937 | intergenic variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 159092646 | intron variant | G/A | snv | 0.60 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 159001296 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1.000 | 0.080 | 17 | 40010626 | upstream gene variant | T/C | snv | 0.36 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1 | 155938032 | upstream gene variant | T/A | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
4 | 74112120 | upstream gene variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 161975629 | intergenic variant | C/A | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
6 | 31062345 | downstream gene variant | T/G | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 39972395 | intron variant | C/T | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
21 | 35477121 | intron variant | A/T | snv | 2.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.807 | 0.360 | 6 | 31090563 | intergenic variant | C/A | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.440 | 6 | 31973120 | non coding transcript exon variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |