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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 53826341 | missense variant | G/A | snv | 4.6E-04 | 5.7E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.720 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.720 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 53837894 | intron variant | T/G | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 53824112 | intron variant | C/A;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 16 | 53825000 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 16 | 53961672 | intron variant | T/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 53787395 | intron variant | C/T | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 16 | 54080912 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 16 | 54080912 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 16 | 54080912 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 16 | 54080912 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 53833547 | intron variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 53826569 | intron variant | G/A | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 53844521 | intron variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 53777876 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 53763271 | intron variant | C/A | snv | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 53840745 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 16 | 53825246 | intron variant | A/G | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 53825246 | intron variant | A/G | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 53825246 | intron variant | A/G | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 16 | 53778702 | intron variant | G/A | snv | 0.54 |
|
0.710 | 1.000 | 1 | 2011 | 2019 |