Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 41934917 | downstream gene variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 41934917 | downstream gene variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 41936044 | missense variant | A/C;G;T | snv | 0.54; 1.6E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 41936060 | stop gained | C/A;G;T | snv | 1.2E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 41936060 | stop gained | C/A;G;T | snv | 1.2E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 6 | 41937436 | intron variant | T/A | snv | 0.79 | 0.81 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 6 | 41937436 | intron variant | T/A | snv | 0.79 | 0.81 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 6 | 41937436 | intron variant | T/A | snv | 0.79 | 0.81 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2013 | |||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2010 | |||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2012 | |||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 41938923 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41938923 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41940117 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 41942326 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 41942326 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 41943447 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 41946040 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 41946640 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 41946640 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 41946640 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 41947781 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 41947966 | intron variant | G/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |