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 | 2 | 21044589 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 6 | 115991730 | intron variant | A/T | snv | 0.35 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 5 | 75341886 | intron variant | A/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 112970444 | intron variant | A/G | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 10111284 | intron variant | T/C | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 8 | 54509054 | upstream gene variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 8 | 10156645 | intron variant | G/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 30632373 | non coding transcript exon variant | C/T | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 7 | 44544952 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 7 | 106258428 | intron variant | C/T | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 122372369 | intron variant | A/T | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 122376185 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 19 | 19244291 | intron variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 19 | 19394278 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 3 | 190647811 | intron variant | G/C | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 5 | 75348856 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 131578846 | intron variant | C/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 118078265 | intergenic variant | G/A | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 237648783 | intron variant | T/G | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 19 | 19612406 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 47824663 | intron variant | T/C | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |