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 | 116851325 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
11 | 116855332 | non coding transcript exon variant | C/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 116877505 | intron variant | G/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 116884868 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 116885467 | intron variant | G/A | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 116896183 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 116897884 | intron variant | AA/-;A;AAA | delins | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
11 | 116901725 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 11 | 116902201 | intron variant | G/A | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 116910829 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 116910829 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 116910829 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 11 | 116912258 | intron variant | T/G | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
11 | 116913660 | intron variant | G/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 11 | 116913976 | intron variant | T/C | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 116920591 | intron variant | G/A | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 116920591 | intron variant | G/A | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 116934348 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 116934348 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 116936627 | intron variant | G/A | snv | 1.1E-02 |
|
0.800 | 1.000 | 3 | 2014 | 2019 | ||||||||||
|
11 | 116936627 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |