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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 21018633 | intron variant | A/G | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
16 | 56966973 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 44943964 | intron variant | G/A | snv | 1.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
3 | 58395560 | intron variant | G/A | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
22 | 35315105 | intron variant | A/G | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
1.000 | 0.080 | 19 | 44738916 | intergenic variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
11 | 116736721 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||||
|
0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 |
|
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 | 2019 | ||||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
7 | 44542387 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
7 | 1044141 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 125465736 | upstream gene variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||||
|
0.925 | 0.120 | 2 | 120551912 | downstream gene variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 |