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 | 55485759 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
9 | 125506375 | missense variant | G/T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 46576601 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
16 | 55485367 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
22 | 39955861 | missense variant | A/G | snv | 4.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
6 | 30627473 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
7 | 81707297 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 124589710 | missense variant | C/A;G;T | snv | 1.2E-05; 4.1E-06; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
12 | 96051770 | intergenic variant | C/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 52061301 | missense variant | C/G | snv | 5.8E-02 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
3 | 127014358 | missense variant | G/A;C | snv | 6.7E-05; 1.0E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 42182000 | missense variant | G/A;C | snv | 4.0E-06; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
10 | 43109220 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 46010492 | missense variant | C/G | snv | 3.6E-05 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
4 | 83322396 | intron variant | A/G | snv | 0.18 | 0.18 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
2 | 46701027 | intron variant | C/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 218890134 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
12 | 25225657 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
3 | 189869342 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
20 | 32083944 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
11 | 101127788 | missense variant | C/T | snv | 6.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
10 | 102422814 | missense variant | G/A | snv | 1.3E-04 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
22 | 39969528 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |