| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 22 | 21769233 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 22 | 30617374 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 6 | 33189169 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 7 | 45921122 | missense variant | T/C | snv | 1.0E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 2 | 136115450 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 12 | 71584007 | missense variant | T/C | snv | 7.4E-02 | 8.6E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 2 | 96143592 | 3 prime UTR variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 122261339 | intron variant | G/T | snv | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 78214076 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 3 | 122286284 | 3 prime UTR variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 15 | 31065098 | mature miRNA variant | C/T | snv | 1.2E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 178449632 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 5 | 132679748 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 2 | 178437157 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 52766089 | 3 prime UTR variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 14 | 68536271 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 17 | 58281523 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 58205665 | 3 prime UTR variant | G/A | snv | 9.2E-02 | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 4 | 102466262 | downstream gene variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 4 | 174465154 | intergenic variant | C/A;G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 15 | 51329528 | intron variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 17 | 47981705 | missense variant | T/C | snv | 0.25 | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 9 | 117700861 | upstream gene variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 4 | 99349450 | intron variant | C/T | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |