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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 12301362 | intron variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||||
|
3 | 12318995 | intron variant | C/T | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 12379746 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
3 | 12433975 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||||
|
3 | 12349708 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 3 | 12416950 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 3 | 12428740 | intron variant | A/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 3 | 12392637 | synonymous variant | A/G | snv | 4.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.040 | 3 | 12350773 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 3 | 12379761 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 12405654 | intron variant | G/T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 3 | 12392701 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 3 | 12310247 | intron variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 12318715 | intron variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 3 | 12312494 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | 3 | 12312494 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | 3 | 12312494 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | 3 | 12416849 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 3 | 12416849 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 3 | 12416849 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |