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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
4 | 87109109 | intron variant | G/T | snv | 0.56 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
16 | 30907166 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1 | 62465961 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
11 | 116791615 | synonymous variant | G/T | snv | 7.7E-02 | 0.10 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
19 | 19610913 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||||
|
8 | 19962922 | intron variant | T/C | snv | 9.4E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
11 | 116736721 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||||
|
8 | 19985951 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||||||
|
1 | 62590441 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
11 | 116752943 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
8 | 125465736 | upstream gene variant | G/A;C;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
19 | 19225799 | intron variant | C/T | snv | 9.4E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
19 | 19635342 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||||||
|
15 | 42391589 | intron variant | G/A | snv | 3.6E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
15 | 43953733 | intron variant | A/T | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
8 | 125481504 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
8 | 19961928 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2008 | 2019 |