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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 102476127 | intron variant | C/T | snv | 8.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 102464131 | intron variant | T/C | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 102464131 | intron variant | T/C | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 102464131 | intron variant | T/C | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 102444085 | intron variant | T/C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 102430212 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 102419939 | intron variant | A/G | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 102405820 | intron variant | A/G | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
12 | 102405820 | intron variant | A/G | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
12 | 102438008 | intron variant | T/G | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 102410115 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 102463485 | non coding transcript exon variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 102402539 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.040 | 12 | 102419531 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |