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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 18045473 | upstream gene variant | -/A | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 45928576 | non coding transcript exon variant | -/G;GAG;GAGAG | ins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 136406836 | intron variant | -/GAATTAAA | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 109275536 | 3 prime UTR variant | -/T | ins | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 75841535 | intron variant | A/-;AA | delins | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 28395021 | 3 prime UTR variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
2 | 20998163 | downstream gene variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
8 | 29502788 | intergenic variant | A/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 39590106 | intergenic variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 49986605 | intron variant | A/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 68483300 | intron variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 132032931 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50057046 | intron variant | A/C | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 117349713 | intron variant | A/C | snv | 9.4E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
19 | 33405526 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 14482917 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 172380106 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 51969287 | 3 prime UTR variant | A/C | snv | 4.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 21499625 | intron variant | A/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.800 | 1.000 | 5 | 2010 | 2018 | |||||||||||
|
18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 |
|
0.700 | 1.000 | 3 | 2014 | 2018 | ||||||||||
|
15 | 43434427 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 |