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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.810 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
1.000 | 0.120 | 11 | 2148544 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 |
|
0.790 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 |
|
0.720 | 1.000 | 1 | 2016 | 2019 | |||||||
|
0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 |
|
0.710 | 1.000 | 1 | 2018 | 2019 | |||||||
|
11 | 2157100 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 2157100 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 11 | 2140300 | splice acceptor variant | C/T | snv | 2.8E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 11 | 2146620 | non coding transcript exon variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
11 | 2144346 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 2144346 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 2144346 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |