| 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 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 |
|
0.720 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 4 | 69576447 | intron variant | A/G | snv | 0.76 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 16974091 | upstream gene variant | A/G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 6 | 3580855 | downstream gene variant | T/A | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.200 | 7 | 87595783 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 14 | 32706736 | intron variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 14 | 32625843 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 10 | 5049762 | intron variant | C/T | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 17566321 | intron variant | A/C | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.925 | 0.120 | 2 | 28097166 | intron variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |