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 | 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 | ||||||
|
3 | 1 | 230164840 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
3 | 9 | 15305380 | intron variant | G/C | snv | 0.72 | 0.700 | 1.000 | 2 | 2010 | 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 | ||||||
|
3 | 12 | 20320824 | intergenic variant | C/A | snv | 0.39 | 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 | ||||||
|
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 | ||||||
|
3 | 12 | 124777047 | 3 prime UTR variant | C/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 2 | 218439407 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 26061368 | regulatory region variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 19964304 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 8 | 10156645 | intron variant | G/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 104898869 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 9 | 134415237 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 14 | 54889676 | intron variant | C/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 202554561 | intron variant | A/G | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 155207180 | non coding transcript exon variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 73487060 | intron variant | A/T | snv | 2.6E-02 | 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 | 1 | 150876501 | intron variant | G/A;C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |