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 | 0.925 | 0.120 | 16 | 82628663 | intron variant | G/T | snv | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2014 | ||||
|
3 | 0.925 | 0.120 | 16 | 82629683 | intron variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
10 | 0.790 | 0.320 | 16 | 82617112 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.080 | 3 | 186836503 | intergenic variant | T/G | snv | 0.86 | 0.800 | 1.000 | 2 | 2010 | 2010 | ||||
|
1 | 5 | 108580035 | intergenic variant | A/G | snv | 0.70 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 24299684 | intergenic variant | A/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.882 | 0.160 | 3 | 186831906 | downstream gene variant | G/A | snv | 0.33 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 3 | 52686064 | 5 prime UTR variant | A/C;G;T | snv | 0.49; 4.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 48539450 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 124006982 | intron variant | G/C | snv | 0.60 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 3 | 186715310 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 2 | 226257500 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 0.925 | 0.080 | 3 | 186833922 | intergenic variant | A/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 8 | 139507274 | downstream gene variant | G/T | snv | 0.54 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 3 | 52588070 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 186812695 | intron variant | T/C;G | snv | 0.57 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 186783859 | non coding transcript exon variant | T/C | snv | 0.84 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 219502700 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 219554437 | upstream gene variant | T/C | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 121185572 | non coding transcript exon variant | A/G | snv | 0.59 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 3 | 150324831 | regulatory region variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 |