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 | 8 | 133449608 | TF binding site variant | A/G | snv | 0.38 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 105618627 | intergenic variant | C/T | snv | 0.93 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 7361959 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 20 | 13143086 | intron variant | T/C;G | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 8045606 | regulatory region variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 165434666 | intron variant | G/A | snv | 0.72 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 157181989 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 44466713 | upstream gene variant | G/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 10 | 94253948 | intron variant | G/A | snv | 0.67 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 13701633 | intron variant | G/T | snv | 5.1E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 10332578 | intron variant | C/A | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 59828322 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 59821052 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46895257 | intron variant | A/T | snv | 0.56 | 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 | 15 | 74867092 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74900663 | 3 prime UTR variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74897589 | synonymous variant | A/G | snv | 0.44 | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 15 | 74863555 | intron variant | C/T | snv | 0.36 | 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 | 9 | 78599117 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 78587551 | upstream gene variant | G/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 87132049 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 78594735 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 78591878 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |