| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
15 | 38856448 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
20 | 58589799 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
X | 29622701 | intron variant | A/G | snv | 9.3E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 116755542 | intron variant | G/A | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 2 | 27592643 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
8 | 19992246 | intergenic variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 125472284 | intron variant | T/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 |
|
0.800 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
14 | 71727684 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.120 | 2 | 27578892 | missense variant | A/G | snv | 0.30 | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | |||||||
|
8 | 125481504 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | ||||||||||
|
11 | 116813312 | non coding transcript exon variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
16 | 30907166 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
17 | 43800798 | downstream gene variant | A/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 237688783 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 20071071 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
18 | 23299253 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |