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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 6 | 131578846 | intron variant | C/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 230169242 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 11 | 47273075 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
8 | 0.925 | 0.120 | 7 | 73593613 | 3 prime UTR variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.080 | 8 | 19966452 | 3 prime UTR variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
2 | 12 | 124799220 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 124853983 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 15 | 58431227 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 98325004 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 160668785 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||
|
2 | 12 | 124825759 | intron variant | G/A | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 115361021 | intron variant | T/G | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 5 | 55942083 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 8 | 32419595 | intron variant | G/A | snv | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 4988333 | intron variant | C/T | snv | 2.6E-03 | 1.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 12 | 110348445 | 3 prime UTR variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 56969234 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 16 | 56972466 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 16 | 67943479 | 5 prime UTR variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 |