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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 |
|
0.090 | 0.667 | 9 | 2003 | 2016 | |||||||
|
1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 |
|
0.080 | 0.875 | 8 | 2005 | 2018 | ||||||||
|
0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv |
|
0.880 | 1.000 | 8 | 2009 | 2018 | |||||||||
|
1.000 | 0.040 | 12 | 117270390 | intron variant | G/A | snv | 0.64 |
|
0.060 | 1.000 | 6 | 2009 | 2018 | ||||||||
|
0.882 | 0.040 | 13 | 105487313 | intron variant | T/G | snv | 0.51 |
|
0.060 | 0.833 | 6 | 2006 | 2008 | ||||||||
|
0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 |
|
0.850 | 0.889 | 5 | 2011 | 2017 | ||||||||
|
0.882 | 0.040 | 6 | 15664978 | upstream gene variant | A/T | snv | 0.54 |
|
0.050 | 0.800 | 5 | 2005 | 2010 | ||||||||
|
1.000 | 0.040 | 13 | 105533400 | intergenic variant | C/T | snv | 0.46 |
|
0.050 | 1.000 | 5 | 2006 | 2017 | ||||||||
|
0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 |
|
0.040 | 0.250 | 4 | 2013 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 44821583 | intron variant | A/C;G | snv |
|
0.840 | 0.750 | 4 | 2011 | 2017 | |||||||||
|
0.925 | 0.040 | 4 | 117725752 | intergenic variant | A/G | snv | 0.25 |
|
0.840 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.925 | 0.040 | 13 | 105545886 | intergenic variant | T/A | snv | 0.39 |
|
0.040 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 86804135 | intron variant | A/T | snv | 0.39 |
|
0.040 | 0.500 | 4 | 2003 | 2014 | ||||||||
|
0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 |
|
0.740 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.882 | 0.040 | 11 | 35419429 | 5 prime UTR variant | T/G | snv | 0.54 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.851 | 0.040 | 13 | 105489886 | synonymous variant | C/A;T | snv | 0.27; 4.0E-06 | 0.26 |
|
0.040 | 1.000 | 4 | 2006 | 2009 | |||||||
|
0.925 | 0.040 | 8 | 32756465 | missense variant | T/C | snv | 0.13 | 0.13 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||
|
1.000 | 0.040 | 12 | 121243884 | 3 prime UTR variant | T/C | snv | 0.80 |
|
0.030 | 1.000 | 3 | 2014 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 44834046 | intron variant | A/G | snv | 5.1E-02 |
|
0.730 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.882 | 0.040 | 11 | 124742263 | intron variant | G/A | snv | 0.33 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 28259826 | missense variant | C/A;T | snv | 0.12 |
|
0.830 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 66320247 | intron variant | A/G | snv | 0.47 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 241566754 | intron variant | C/T | snv | 0.28 |
|
0.030 | 0.667 | 3 | 2006 | 2014 | ||||||||
|
0.925 | 0.040 | 8 | 32665107 | intron variant | G/T | snv | 4.8E-02 |
|
0.030 | 0.333 | 3 | 2003 | 2014 | ||||||||
|
0.827 | 0.040 | 2 | 170816965 | 5 prime UTR variant | G/A;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2016 |