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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 11 | 113442667 | intron variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.040 | 1.000 | 4 | 2008 | 2012 | |||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.030 | 0.667 | 3 | 1996 | 1998 | |||||||
|
0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 113425385 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 11 | 113420866 | intron variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 11 | 113420621 | intron variant | T/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 11 | 113447251 | intron variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.020 | 1.000 | 2 | 1995 | 2003 |