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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 233674844 | intron variant | C/T | snv | 8.2E-02 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
15 | 78479204 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2010 | 2010 | |||||||||||
|
9 | 75927370 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||||
|
1 | 159699194 | intergenic variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||||
|
12 | 121001630 | 3 prime UTR variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
1 | 159736723 | intergenic variant | T/C | snv | 7.6E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
1 | 159736770 | intergenic variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
3 | 56831748 | intron variant | A/G | snv | 0.63 |
|
0.800 | 1.000 | 3 | 2009 | 2012 | ||||||||||
|
19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
14 | 92307319 | intergenic variant | G/T | snv | 0.32 |
|
0.800 | 1.000 | 3 | 2007 | 2013 | ||||||||||
|
3 | 56815721 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.700 | 1.000 | 3 | 2011 | 2014 | ||||||||||
|
2 | 233656792 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
2 | 233656792 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
1 | 159683809 | intergenic variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||||
|
15 | 28285036 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 3 | 2007 | 2018 | |||||||||||
|
1 | 159684073 | intergenic variant | C/A | snv | 5.5E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
1 | 159706381 | upstream gene variant | T/C | snv | 5.6E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
1 | 159706430 | upstream gene variant | A/G | snv | 5.6E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
1 | 159727685 | intergenic variant | T/C | snv | 7.4E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||||
|
6 | 34227234 | regulatory region variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 3 | 2008 | 2010 | ||||||||||
|
17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 |
|
0.800 | 1.000 | 3 | 2012 | 2018 | ||||||||||
|
17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||||
|
15 | 78510715 | intron variant | -/T | delins | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2010 | 2010 |