| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 113391072 | intron variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 116699228 | synonymous variant | G/A | snv | 3.3E-02 | 3.3E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 7 | 116778827 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.120 | 7 | 116782027 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 7 | 116782048 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 7 | 116783329 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.030 | 0.667 | 3 | 2008 | 2019 | |||||||
|
1.000 | 0.120 | 2 | 119243542 | intron variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 11 | 11967604 | intron variant | C/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 3 | 120421014 | intron variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 |
|
0.810 | 1.000 | 3 | 2011 | 2017 |