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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.800 | 1.000 | 6 | 2011 | 2019 | ||||
|
3 | 17 | 40000459 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2010 | 2014 | |||||||
|
1 | 11 | 103718366 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 9384656 | intron variant | T/C | snv | 0.23 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 8 | 80557885 | upstream gene variant | A/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 40803034 | intron variant | A/G | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 11780735 | intron variant | A/G | snv | 4.0E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 132095056 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 8808940 | intron variant | T/C | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 17 | 40010626 | upstream gene variant | T/C | snv | 0.36 | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 2 | 135728087 | downstream gene variant | C/T | snv | 0.97 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 4 | 74105479 | intergenic variant | G/A | snv | 0.57 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 14 | 68713254 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 113108257 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 2 | 61476184 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 18 | 50621423 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 18 | 50621506 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 10 | 63250912 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 88449697 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 8 | 7048518 | intergenic variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2016 | 2016 |