| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 56815721 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 8 | 2011 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 |
|
0.800 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
18 | 23141009 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||||||
|
0.925 | 0.080 | 8 | 105569300 | intron variant | A/T | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
19 | 16074749 | non coding transcript exon variant | G/A | snv | 3.9E-02 |
|
0.800 | 1.000 | 4 | 2011 | 2019 | ||||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.800 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
11 | 202856 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
7 | 106718770 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
9 | 21986848 | intron variant | T/A | snv | 0.74 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||||
|
1.000 | 6 | 31354590 | non coding transcript exon variant | T/G | snv | 7.7E-02 | 2.3E-02 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
9 | 4744743 | intron variant | T/C | snv | 0.38 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
12 | 54342686 | intron variant | A/C;G | snv | 0.68 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
10 | 63203689 | intron variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 33573942 | intron variant | A/G | snv | 0.51 | 0.51 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||
|
17 | 29487478 | intron variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
0.851 | 0.280 | 17 | 4933086 | missense variant | C/T | snv | 9.8E-02 | 0.13 |
|
0.800 | 1.000 | 2 | 2010 | 2011 | |||||||
|
12 | 6181927 | intergenic variant | G/A;T | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||||
|
3 | 18269920 | intron variant | G/A | snv | 0.81 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||||
|
22 | 19996754 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
17 | 35557785 | missense variant | T/C | snv | 0.21 | 0.19 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |