| 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 | 0.120 | 1 | 241872080 | missense variant | C/T | snv | 0.11; 6.8E-05 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.080 | 1 | 204196482 | 5 prime UTR variant | A/- | delins | 0.44 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 111215824 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 2 | 211381247 | 3 prime UTR variant | A/C | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.240 | 2 | 47476361 | splice region variant | T/A;C;G | snv | 4.0E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.120 | 2 | 48712814 | intron variant | T/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |