| 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 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 44879780 | intron variant | A/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 116755542 | intron variant | G/A | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 20976028 | intergenic variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.882 | 0.120 | 2 | 27592643 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.882 | 0.200 | 11 | 61829740 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
8 | 19994534 | regulatory region variant | T/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.882 | 0.120 | 2 | 27578892 | missense variant | A/G | snv | 0.30 | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2012 | |||||||
|
0.807 | 0.240 | 7 | 73462836 | non coding transcript exon variant | T/C | snv | 9.2E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
22 | 38181508 | intron variant | G/A | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
19 | 19635342 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2019 | |||||||||||
|
4 | 87084051 | intron variant | G/A | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2016 |