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 | 11 | 9410543 | intron variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 10 | 102869254 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 17 | 49325445 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 2 | 164058698 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 3 | 27496418 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 4 | 80237391 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 6 | 126794309 | intron variant | C/G;T | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 10156359 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 169468505 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 56081540 | upstream gene variant | G/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 11 | 16228637 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 2 | 164106976 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 45764988 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 16245194 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 3 | 164019462 | intergenic variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 2 | 164050310 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 14848249 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 6 | 15922795 | TF binding site variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 101639133 | intron variant | A/C | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 150683634 | 5 prime UTR variant | G/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 10310742 | intron variant | G/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 100944649 | intron variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 7 | 27298248 | intergenic variant | G/T | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 |