Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 88961569 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
6 | 1 | 16980180 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1 | 218686726 | regulatory region variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 228637787 | intron variant | C/T | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 2 | 238955452 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 2 | 228719134 | intron variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 2 | 228646213 | intron variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 228637029 | intron variant | A/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 228659425 | intron variant | A/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 228659922 | intron variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 2 | 228705203 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 2 | 228669169 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
10 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 2 | 228727588 | intron variant | T/C | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 2 | 238440721 | intron variant | G/A | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 228648185 | intron variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 228726001 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 228690227 | intron variant | C/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 228666449 | intron variant | C/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 3 | 169582431 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 1.000 | 0.040 | 4 | 144515172 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 3 | 2009 | 2010 | ||||
|
4 | 4 | 144513592 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||||
|
4 | 4 | 105767747 | intron variant | A/G | snv | 5.4E-02 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||||
|
4 | 4 | 144557987 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2009 | 2010 |