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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 6 | 29012930 | intergenic variant | A/G | snv | 5.3E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.925 | 0.160 | 6 | 28869660 | intergenic variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.807 | 0.280 | 6 | 30576624 | intron variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 0.807 | 0.320 | 6 | 29978172 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
6 | 0.851 | 0.080 | 15 | 78727268 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
7 | 0.827 | 0.160 | 5 | 1308437 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
6 | 0.807 | 0.320 | 6 | 31902549 | intron variant | G/A | snv | 7.7E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
6 | 0.807 | 0.360 | 6 | 31161533 | missense variant | C/T | snv | 7.0E-02 | 7.6E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | |||
|
7 | 0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | |||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | |||
|
10 | 0.807 | 0.280 | 6 | 30070870 | 3 prime UTR variant | T/C;G | snv | 5.2E-02; 7.2E-06 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
4 | 0.851 | 0.240 | 6 | 30685004 | missense variant | C/G;T | snv | 4.1E-06; 6.1E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
4 | 0.851 | 0.240 | 6 | 27566749 | intergenic variant | A/G | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 15 | 78450412 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.080 | 12 | 955272 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 15 | 78714100 | intron variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 30125781 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.200 | 6 | 30077422 | upstream gene variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 30179823 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 6 | 28744886 | intergenic variant | A/G | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 16 | 6367932 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 6 | 30070575 | 3 prime UTR variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.200 | 6 | 28289600 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 189639813 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 |