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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 25952206 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 6 | 2013 | 2019 | |||||||||||
|
8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 6 | 2010 | 2019 | |||||||||||
|
1 | 109275216 | 3 prime UTR variant | T/C | snv | 0.75 |
|
0.800 | 1.000 | 6 | 2008 | 2019 | ||||||||||
|
11 | 47508395 | intron variant | C/A | snv | 0.36 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
2 | 212548507 | regulatory region variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv |
|
0.800 | 1.000 | 5 | 2013 | 2019 | |||||||||||
|
12 | 69433878 | intergenic variant | G/T | snv | 0.42 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
15 | 58431280 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
1 | 190270777 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||||
|
5 | 32814922 | regulatory region variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 5 | 2011 | 2018 | ||||||||||
|
5 | 158418394 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2011 | 2018 | |||||||||||
|
20 | 10988382 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 5 | 2011 | 2018 | ||||||||||
|
19 | 11416089 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||||
|
16 | 67894139 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
20 | 54115823 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||||
|
19 | 18344015 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
6 | 34227234 | regulatory region variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 5 | 2008 | 2019 | ||||||||||
|
6 | 34595387 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
7 | 76978826 | non coding transcript exon variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 5 | 2015 | 2018 | ||||||||||
|
15 | 58434545 | intron variant | G/C | snv | 0.73 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
16 | 28322090 | 3 prime UTR variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 5 | 2015 | 2018 |