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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 20457260 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.030 | 1.000 | 3 | 2001 | 2017 | |||||||||
|
6 | 43770833 | missense variant | G/A | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
16 | 56608372 | upstream gene variant | A/G | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||||
|
3 | 186843845 | intron variant | G/A | snv | 0.14 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
7 | 55156555 | synonymous variant | T/C | snv | 5.6E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
3 | 39094706 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
9 | 132398145 | synonymous variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 18814978 | intron variant | T/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
9 | 87541931 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
21 | 45456344 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||||
|
5 | 151128211 | missense variant | G/A | snv | 2.0E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
9 | 87707108 | missense variant | G/A | snv | 0.67 | 0.59 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
4 | 54733175 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 152011697 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
17 | 7675207 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 43076544 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||||
|
10 | 121274035 | intergenic variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
12 | 67643308 | intergenic variant | G/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
16 | 84165838 | missense variant | C/G | snv | 2.0E-02 | 3.1E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
12 | 69391968 | downstream gene variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 13499310 | missense variant | T/G | snv | 0.85; 4.0E-06 | 0.85 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
2 | 29220897 | 3 prime UTR variant | T/C | snv | 3.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 49008516 | 5 prime UTR variant | G/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 6537117 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 237708614 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |