| 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 | 65615104 | intron variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 65615104 | intron variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 207620619 | intron variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
1 | 159248476 | regulatory region variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
2 | 113077243 | downstream gene variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 11 | 61832870 | intron variant | A/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 92362948 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 159636104 | intergenic variant | A/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 131470731 | upstream gene variant | A/C | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 32602640 | intergenic variant | A/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 159162136 | intergenic variant | A/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 61225053 | intergenic variant | A/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 26853597 | intron variant | A/C | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 120982457 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||||
|
12 | 120998573 | intron variant | A/C;G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 213168806 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 6 | 2008 | 2019 | |||||||||
|
0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||||
|
1 | 159215190 | regulatory region variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 159225048 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 120982460 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.800 | 1.000 | 3 | 2008 | 2019 |