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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1 | 39562508 | non coding transcript exon variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
5 | 0.925 | 0.120 | 7 | 130748625 | intergenic variant | C/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 12 | 123311691 | intron variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 12 | 123975620 | intron variant | G/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 16 | 56977273 | non coding transcript exon variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
7 | 1.000 | 0.040 | 20 | 45916409 | upstream gene variant | C/T | snv | 0.68 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 1 | 230164840 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||
|
3 | 9 | 15305380 | intron variant | G/C | snv | 0.72 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
5 | 1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||
|
6 | 6 | 139508529 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
4 | 5 | 54002195 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2012 | |||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 12 | 20320824 | intergenic variant | C/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
4 | 1.000 | 0.200 | 12 | 109562388 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
3 | 18 | 49634583 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
2 | 19 | 8368312 | intron variant | C/A | snv | 0.55 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
6 | 0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
3 | 11 | 122651667 | upstream gene variant | T/C | snv | 0.39 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
5 | 15 | 58432593 | intron variant | T/A | snv | 0.33 | 0.700 | 1.000 | 2 | 2012 | 2012 |