| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 4 | 2011 | 2018 | ||||||||
|
2 | 164155317 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2018 | |||||||||||
|
10 | 103179458 | intron variant | T/C | snv | 9.0E-02 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
5 | 32814922 | regulatory region variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
12 | 115115073 | intergenic variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2018 | 2018 | ||||||||||
|
11 | 1871355 | 5 prime UTR variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 3 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
6 | 126825734 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 89665065 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
10 | 103947673 | intergenic variant | A/G | snv | 5.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
10 | 103199143 | intergenic variant | G/A | snv | 9.1E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
5 | 32829823 | intergenic variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 26691496 | upstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 155724361 | intron variant | C/A | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
4 | 80237391 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
20 | 10988382 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2011 | 2018 | ||||||||||
|
12 | 89595822 | intron variant | G/A | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2018 | 2018 |