| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 157736845 | 3 prime UTR variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 21 | 26837076 | 3 prime UTR variant | T/C | snv | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 4 | 2915035 | missense variant | C/G;T | snv | 0.20 | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 0.800 | 5 | 2006 | 2016 | ||||||||
|
0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.060 | 0.833 | 6 | 2008 | 2017 | |||||||||
|
0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.090 | 0.889 | 9 | 2013 | 2017 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.040 | 0.750 | 4 | 2014 | 2015 | |||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.040 | 1.000 | 4 | 2011 | 2015 | ||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.030 | 0.667 | 3 | 2011 | 2015 | ||||||||
|
0.807 | 0.200 | 1 | 202940846 | 3 prime UTR variant | G/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 12 | 1747816 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 6 | 32182641 | missense variant | G/C | snv | 4.1E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 6 | 32183616 | synonymous variant | C/T | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | 1.000 | 2 | 2012 | 2020 | |||||||
|
0.882 | 0.160 | 11 | 67483205 | missense variant | G/A | snv | 2.0E-03 | 1.9E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.200 | 17 | 19909228 | missense variant | T/C | snv | 0.37 | 0.43 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |