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 | 0.925 | 0.080 | 15 | 93598604 | intron variant | T/G | snv | 0.10 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 99844192 | intron variant | C/T | snv | 0.61 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 0.925 | 0.080 | 14 | 23370824 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 19 | 38645846 | upstream gene variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 127995166 | non coding transcript exon variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 22 | 36160720 | stop gained | G/A | snv | 1.6E-02 | 6.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 19 | 35830918 | missense variant | G/A | snv | 4.3E-04 | 1.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 4 | 73412045 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.080 | 1 | 22348728 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 14 | 59643053 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 15 | 47852953 | intron variant | C/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 4 | 186250267 | missense variant | A/C;G | snv | 1.8E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.080 | 19 | 35842486 | missense variant | C/T | snv | 6.8E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.080 | 10 | 79164105 | intron variant | C/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 15 | 93608310 | intron variant | G/A | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 16 | 20343125 | intron variant | G/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 22 | 36299382 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 13 | 106519637 | non coding transcript exon variant | T/C;G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 22 | 36312039 | intron variant | C/G;T | snv | 0.88 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 16 | 23835433 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 14 | 104703440 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 1 | 243335010 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | X | 108598805 | missense variant | C/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |