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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 6 | 12293978 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 6 | 12292506 | missense variant | C/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 6 | 12292467 | missense variant | T/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 6 | 12295643 | intron variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 12295754 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 12294629 | intron variant | T/A;C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 6 | 12293956 | stop gained | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 |
|
0.080 | 0.875 | 8 | 2003 | 2018 | |||||||
|
0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2013 | 2014 |