| 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 | 2 | 118970217 | missense variant | C/G;T | snv | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | |||||||
|
0.925 | 0.080 | 3 | 122119944 | 3 prime UTR variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 136392816 | intron variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 3 | 122102296 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 3 | 122052011 | upstream gene variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 12292917 | intron variant | T/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 3 | 52218953 | non coding transcript exon variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 3 | 12297350 | intron variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2015 | |||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 73872213 | downstream gene variant | C/A;G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |