| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 4 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 85567174 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.730 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 23676505 | downstream gene variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 127112950 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2008 | 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 | |||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
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 | ||||||||
|
0.882 | 0.160 | 3 | 128319530 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 170412314 | intron variant | C/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
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 | 23633678 | downstream gene variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 26034626 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 5 | 75587055 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 10 | 121273005 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 11 | 69211113 | regulatory region variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 5 | 140807616 | synonymous variant | G/A;C;T | snv | 4.0E-06; 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 6893379 | intron variant | G/A;C | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |