| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.040 | 1 | 163143470 | 3 prime UTR variant | G/T | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.080 | 12 | 12164494 | missense variant | G/A | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.040 | 9 | 115035318 | synonymous variant | T/C | snv | 0.23 | 0.21 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.120 | 19 | 11113699 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |