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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 19 | 10332578 | intron variant | C/A | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 105618627 | intergenic variant | C/T | snv | 0.93 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 10588037 | intron variant | G/A | snv | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 13143086 | intron variant | T/C;G | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 133449608 | TF binding site variant | A/G | snv | 0.38 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 13701633 | intron variant | G/T | snv | 5.1E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 142914477 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 5 | 157181989 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 165434666 | intron variant | G/A | snv | 0.72 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 1 | 211981666 | intron variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 2 | 222554810 | intron variant | G/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 222667020 | upstream gene variant | C/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 38234638 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 44466713 | upstream gene variant | G/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 22 | 45566024 | intron variant | G/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 18 | 46785694 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46795148 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46796886 | intron variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46803712 | 3 prime UTR variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46816954 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 18 | 46834651 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46837493 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46842370 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 18 | 46849219 | intron variant | T/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46851869 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 |