| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 14 | 104513149 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 81 | 2005 | 2019 | |||||||
|
1.000 | 0.120 | 2 | 112921052 | downstream gene variant | A/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 14 | 104926500 | intron variant | T/C | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.240 | 6 | 31878208 | intron variant | T/C | snv | 0.91 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 32222251 | intron variant | A/G | snv | 0.91 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 32104116 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 8 | 115852272 | intergenic variant | T/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 31650984 | intron variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 32252620 | upstream gene variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 44300181 | 3 prime UTR variant | A/G | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.240 | 6 | 31857051 | downstream gene variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 12 | 120363020 | intron variant | A/G | snv | 0.89 | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 10 | 103653282 | intron variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 32310858 | intron variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 5 | 63735364 | intergenic variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 8 | 133230265 | 3 prime UTR variant | G/T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 5 | 3670892 | intergenic variant | C/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.280 | 6 | 31374854 | intron variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 5 | 133712084 | intergenic variant | T/A;C | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 5 | 157104725 | missense variant | C/A | snv | 0.87 | 0.83 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.882 | 0.200 | 6 | 32444803 | 3 prime UTR variant | T/C;G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |