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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
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 | ||||||
|
7 | 0.925 | 0.080 | 19 | 11084354 | downstream gene variant | A/G | snv | 0.34 | 0.700 | 1.000 | 2 | 2008 | 2009 | ||||
|
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 | ||||||
|
7 | 0.925 | 0.120 | 5 | 75352778 | intron variant | A/T | snv | 0.38 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
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 | ||||||
|
5 | 1.000 | 0.080 | 19 | 44943964 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 6 | 160157828 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
8 | 0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
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 | 0.882 | 0.240 | 8 | 58476006 | intergenic variant | T/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
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 | |||||||
|
8 | 0.882 | 0.120 | 6 | 32444658 | 3 prime UTR variant | G/A | snv | 0.13 | 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 | ||||||
|
6 | 0.925 | 0.040 | 2 | 43846861 | non coding transcript exon variant | G/A | snv | 6.9E-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 |