| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 19394168 | intron variant | T/C | snv | 1.00 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 122207191 | missense variant | C/A;G | snv | 1.00 | 0.99 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 116776891 | 3 prime UTR variant | C/T | snv | 0.92 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.800 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.800 | 1.000 | 8 | 2012 | 2019 | |||||||
|
22 | 28757771 | downstream gene variant | C/T | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
8 | 9323885 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 64101590 | intron variant | C/T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
13 | 50647482 | intron variant | C/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 72374091 | intron variant | C/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 7702675 | intergenic variant | G/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 3587163 | regulatory region variant | T/C | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 20 | 2009 | 2019 | ||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 31297713 | intron variant | T/C | snv | 0.80 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
8 | 125462064 | upstream gene variant | G/A | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2016 |