| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 20535707 | intron variant | A/T | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 162323515 | intron variant | A/G | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 162324355 | intron variant | A/G | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 162323874 | intron variant | G/A | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 102959002 | upstream gene variant | A/G | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 119802381 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 32419595 | intron variant | G/A | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 151825722 | intron variant | T/C | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 129976195 | intron variant | G/A | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 75719444 | upstream gene variant | C/T | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 73226816 | intron variant | C/T | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 80711306 | regulatory region variant | C/A | snv | 0.94 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
1 | 154403877 | non coding transcript exon variant | C/T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 218436132 | intron variant | A/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116769521 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
15 | 58430077 | intron variant | G/A | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||
|
9 | 15296036 | intron variant | C/A | snv | 0.89 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||||
|
1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 |