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 | 10 | 120117008 | intergenic variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 30276169 | intergenic variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 30340278 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 30301067 | intron variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 30302598 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 11 | 79281641 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 13 | 42996665 | upstream gene variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 4379277 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 2696555 | intergenic variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.925 | 0.080 | 3 | 157080986 | upstream gene variant | T/C | snv | 0.36 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 3 | 123377973 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
7 | 0.882 | 0.080 | 12 | 65964567 | 3 prime UTR variant | C/T | snv | 0.48 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 3 | 157080684 | upstream gene variant | C/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 5 | 57876251 | intergenic variant | T/C | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 6 | 20703721 | intron variant | A/G | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 4 | 17991787 | intron variant | A/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 7 | 93612328 | intron variant | T/C | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 85156012 | upstream gene variant | A/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 9 | 85130318 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 16 | 19981674 | intergenic variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 33435107 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 151711782 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 12 | 12737692 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 17 | 7268037 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 123349897 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 |