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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 |
|
0.900 | 0.933 | 15 | 1999 | 2019 | ||||||||
|
0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 |
|
0.880 | 1.000 | 12 | 2009 | 2019 | |||||||
|
0.827 | 0.240 | 12 | 6334099 | missense variant | C/T | snv |
|
0.850 | 1.000 | 9 | 1999 | 2014 | |||||||||
|
0.827 | 0.240 | 12 | 6333823 | missense variant | G/A;T | snv |
|
0.840 | 1.000 | 12 | 1999 | 2019 | |||||||||
|
0.925 | 0.200 | 12 | 6333490 | missense variant | A/G | snv |
|
0.810 | 1.000 | 6 | 1999 | 2008 | |||||||||
|
1.000 | 0.120 | 12 | 6333489 | missense variant | C/T | snv |
|
0.810 | 1.000 | 6 | 1999 | 2010 | |||||||||
|
0.925 | 0.120 | 12 | 6333764 | missense variant | A/C;G;T | snv |
|
0.810 | 1.000 | 6 | 1999 | 2014 | |||||||||
|
1.000 | 0.120 | 12 | 6334109 | missense variant | A/G | snv |
|
0.800 | 1.000 | 5 | 1999 | 2004 | |||||||||
|
1.000 | 0.120 | 12 | 6333817 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 5 | 1999 | 2004 | |||||||||
|
0.882 | 0.240 | 12 | 6334108 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 5 | 1999 | 2004 | ||||||||
|
1.000 | 0.120 | 12 | 6334100 | missense variant | A/C | snv |
|
0.800 | 1.000 | 5 | 1999 | 2004 | |||||||||
|
0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | |||||||
|
0.851 | 0.320 | 12 | 6333835 | missense variant | G/A;C | snv | 5.7E-03 |
|
0.710 | 1.000 | 6 | 1999 | 2005 | ||||||||
|
0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 |
|
0.700 | 1.000 | 6 | 2006 | 2014 | ||||||||
|
1.000 | 0.120 | 12 | 6334131 | missense variant | G/C | snv |
|
0.700 | 1.000 | 5 | 1999 | 2004 | |||||||||
|
0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 6337819 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 6336163 | intron variant | G/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |