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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 4 | 2010 | 2013 | ||||
|
4 | 1.000 | 0.080 | 1 | 74525960 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
7 | 0.925 | 0.200 | 1 | 72346757 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
3 | 1 | 96479241 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
3 | 1 | 177904075 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
3 | 1 | 72372723 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1 | 86022231 | intron variant | C/A | snv | 0.27 | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1 | 74534327 | intron variant | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1 | 199950846 | intergenic variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 74534327 | intron variant | A/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1 | 63015059 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1 | 74534327 | intron variant | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1 | 219527177 | intergenic variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 1070426 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 177886382 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 177933618 | missense variant | G/A;C | snv | 4.0E-06; 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1 | 219455340 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
4 | 1.000 | 0.080 | 2 | 629244 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
3 | 2 | 142202362 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 2 | 24908447 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
5 | 0.925 | 0.160 | 2 | 24935139 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2010 | 2013 |