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 | 0.080 | 2 | 197848507 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 197820885 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.240 | 4 | 94641726 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 5 | 141339183 | missense variant | G/T | snv | 3.4E-03 | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 140836371 | missense variant | C/G | snv | 4.4E-03 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
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 | ||||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 4 | 2008 | 2013 | ||||||||
|
0.827 | 0.160 | 8 | 127082911 | non coding transcript exon variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.720 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 0.667 | 1 | 2008 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 126912414 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.800 | 0.950 | 3 | 2007 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 127112950 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
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 | ||||||||
|
1.000 | 0.080 | 8 | 127113259 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 127110414 | intron variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 127104255 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.780 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.500 | 1 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 32224554 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 1 | 2013 | 2018 | |||||||||
|
0.925 | 0.080 | 2 | 237534583 | missense variant | A/G | snv | 0.28 | 0.34 |
|
0.710 | 1.000 | 1 | 2011 | 2011 |