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 | 6 | 98014625 | intron variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 96464584 | intron variant | A/T | snv | 9.2E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 95231973 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 95083980 | regulatory region variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 95050081 | intron variant | T/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 95020269 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 94921652 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 85306432 | intron variant | A/C;G | snv | 7.4E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 85193571 | non coding transcript exon variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 13 | 74553977 | non coding transcript exon variant | C/T | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 7454852 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 7345864 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 7053052 | intron variant | G/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 17 | 69854760 | intron variant | G/A | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 68627895 | non coding transcript exon variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 11 | 62048331 | downstream gene variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 62028114 | intergenic variant | T/G | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 62024415 | intergenic variant | A/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 62005870 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 61978819 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 61978481 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 61969772 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 61962762 | synonymous variant | T/C | snv | 0.46 | 0.43 | 0.700 | 1.000 | 1 | 2011 | 2011 |