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 | 0.080 | 8 | 58487781 | downstream gene variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 11 | 13505086 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 24480037 | intergenic variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 16 | 69711169 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 58505225 | downstream gene variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 225838845 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 10 | 94947853 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 13 | 103052694 | missense variant | A/C | snv | 0.85 | 0.89 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 5 | 7878311 | missense variant | T/A | snv | 4.3E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 5 | 38831029 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 20 | 54171650 | missense variant | C/G;T | snv | 4.0E-06; 3.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 7428456 | intron variant | T/G | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 18222499 | missense variant | G/A;C | snv | 4.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 13 | 103052700 | synonymous variant | G/A | snv | 1.9E-02 | 2.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 20 | 53559566 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 218860595 | intron variant | C/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 92263265 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 58499412 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 58491882 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 58491017 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 122990126 | downstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 8 | 58493381 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 52799190 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 22 | 30615698 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 5 | 7889191 | missense variant | C/T | snv | 6.1E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 |