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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
6 | 1 | 109275216 | 3 prime UTR variant | T/C | snv | 0.75 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||||
|
3 | 8 | 143969375 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 11 | 126374057 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 1 | 55052487 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
3 | 1 | 25449242 | intron variant | A/T | snv | 0.50 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
4 | 2 | 21018633 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
8 | 19 | 44917997 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 19 | 11091784 | intron variant | T/A | snv | 6.4E-03 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
4 | 19 | 11087511 | upstream gene variant | C/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
3 | 1 | 220800221 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 20 | 40462847 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
3 | 6 | 16127176 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 19 | 44917086 | intron variant | G/A | snv | 7.9E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 1 | 55053501 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
3 | 19 | 10277786 | intron variant | G/A | snv | 2.1E-03 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 1 | 234722850 | upstream gene variant | A/T | snv | 0.62 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 20 | 41043978 | intron variant | T/A | snv | 0.58 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
4 | 1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||||
|
7 | 8 | 125467073 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 17 | 47347749 | intron variant | G/A;T | snv | 0.47 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 14 | 24414681 | missense variant | G/A | snv | 0.37 | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2013 |