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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 25449242 | intron variant | A/T | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
6 | 160157828 | intron variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.882 | 0.200 | 11 | 61829740 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 |
|
0.800 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.882 | 0.240 | 8 | 58476006 | intergenic variant | T/C | snv | 0.70 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
10 | 112174128 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
20 | 35564866 | non coding transcript exon variant | C/T | snv | 0.18 | 0.17 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||
|
3 | 12587421 | non coding transcript exon variant | G/C | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1 | 220800221 | intron variant | C/T | snv | 0.73 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
6 | 34578783 | upstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
20 | 40462847 | regulatory region variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
0.882 | 0.120 | 6 | 32444658 | 3 prime UTR variant | G/A | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
6 | 16127176 | upstream gene variant | C/T | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.925 | 0.120 | 19 | 48703160 | synonymous variant | A/G | snv | 0.38 | 0.45 |
|
0.800 | 1.000 | 2 | 2010 | 2018 |