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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 2 | 43817116 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 13841158 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 3 | 133827453 | 3 prime UTR variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 6 | 25821542 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1 | 218913054 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 141601769 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
15 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 3 | 133579276 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 89201166 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 239729660 | intergenic variant | A/C | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 111101950 | intron variant | A/G | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 116248203 | intron variant | G/A | snv | 0.99 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 |