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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32331815 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 2 | 30226728 | upstream gene variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.820 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 32313911 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32313899 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32313733 | intron variant | A/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32313583 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 2 | 100056230 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 30400858 | intergenic variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32445032 | 3 prime UTR variant | T/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 31116393 | missense variant | A/C | snv | 0.21 | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 32937204 | missense variant | G/A | snv | 0.78 | 0.80 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 33086565 | 3 prime UTR variant | T/A;C | snv | 6.1E-03; 7.4E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 33086680 | 3 prime UTR variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 6 | 31937353 | synonymous variant | G/A | snv | 9.7E-02 | 0.12 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 22 | 30285268 | 3 prime UTR variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 6 | 31628105 | missense variant | C/A | snv | 0.79 | 0.74 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 29027942 | upstream gene variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 |
|
0.710 | 1.000 | 1 | 2009 | 2014 | ||||||||
|
1.000 | 0.120 | 6 | 32330360 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 |
|
0.800 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.925 | 0.200 | 6 | 32867481 | regulatory region variant | T/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |