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 | 3 | 195867623 | missense variant | C/T | snv | 1.4E-02 | 1.1E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 12 | 106556209 | intron variant | G/A | snv | 0.46 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 183042285 | intron variant | T/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 15 | 61708933 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 12 | 39959194 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 16 | 31083850 | 3 prime UTR variant | C/T | snv | 0.42 | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 18813023 | intergenic variant | C/T | snv | 0.28 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 155135691 | splice region variant | G/A;C | snv | 1.1E-02; 3.4E-05 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 11841238 | downstream gene variant | A/G | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 40971838 | 3 prime UTR variant | G/A | snv | 6.8E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 17731923 | intron variant | T/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 154882579 | intergenic variant | G/A | snv | 5.0E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 102831636 | 3 prime UTR variant | G/T | snv | 0.14 | 0.10 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 10 | 69820364 | intron variant | T/C | snv | 6.0E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 17 | 46110126 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 17 | 46788237 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 17 | 46779275 | intron variant | G/C | snv | 0.84 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 154405854 | 3 prime UTR variant | G/A | snv | 6.3E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 81334384 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 119297431 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 4 | 89859751 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 4 | 945325 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 11 | 96375264 | intron variant | T/C;G | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 23084258 | intergenic variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 17 | 45990034 | missense variant | T/C | snv | 0.15 | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 |