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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 14 | 79518375 | intron variant | C/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 7714013 | intron variant | A/G | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 35646249 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 35675286 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 10 | 121531750 | intron variant | G/C | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 29975492 | non coding transcript exon variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 7 | 50482446 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 20180955 | frameshift variant | T/- | del | 5.2E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 8 | 20144915 | 3 prime UTR variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 18 | 910634 | 3 prime UTR variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 1 | 187433789 | intron variant | T/A | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 22 | 36700882 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 22 | 36701519 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 18 | 9959638 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 18 | 9957921 | 3 prime UTR variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 8 | 20164494 | intron variant | G/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 18 | 12008848 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 18 | 11892846 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 5 | 156118554 | intron variant | A/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 12 | 71978821 | intron variant | C/T | snv | 0.58 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 22 | 36708203 | intron variant | C/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 18 | 11887658 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 18 | 11882269 | 3 prime UTR variant | T/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 18 | 12028581 | non coding transcript exon variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 5 | 1446912 | upstream gene variant | C/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |