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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 |
|
0.710 | 1.000 | 6 | 2007 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv |
|
0.800 | 1.000 | 5 | 2008 | 2015 | |||||||||
|
1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 127112950 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 46057646 | regulatory region variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 8 | 127519628 | intergenic variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 |
|
0.730 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 127100470 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 87085650 | upstream gene variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 127513023 | regulatory region variant | C/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 8 | 127113259 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
1.000 | 0.080 | 8 | 127522409 | intergenic variant | G/A | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 2 | 85567174 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 8 | 23676505 | downstream gene variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||
|
0.925 | 0.080 | 8 | 127400902 | non coding transcript exon variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 12 | 49282227 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 11 | 69240647 | regulatory region variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 10 | 8438081 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 8439523 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 197278867 | intron variant | C/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 170412314 | intron variant | C/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |