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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 74192430 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
10 | 3473913 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
16 | 82344176 | regulatory region variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
20 | 37841292 | intron variant | G/A | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
13 | 63060217 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
2 | 120703404 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
16 | 77393872 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1 | 91745463 | intron variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
13 | 42541997 | intergenic variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
13 | 42542075 | intergenic variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42584598 | intron variant | C/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42593197 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
13 | 98519072 | intron variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 13 | 42566423 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
13 | 98447903 | 3 prime UTR variant | G/A | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42564913 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42547624 | intergenic variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
7 | 110438492 | intron variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42537218 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
13 | 42568893 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42543065 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
13 | 42543635 | regulatory region variant | T/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
7 | 110438180 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 |