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 | 12 | 112971371 | 3 prime UTR variant | G/A | snv | 3.7E-03 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||||
|
12 | 0.882 | 12 | 111427245 | intron variant | C/G | snv | 0.67 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 5 | 158392616 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 5 | 157057207 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 8 | 8515975 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1 | 230160042 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 2 | 168974151 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 118938630 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 118944637 | intergenic variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 133566686 | intergenic variant | G/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 9293015 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 4 | 26048829 | intergenic variant | C/- | del | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 11233360 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 12 | 109527707 | intron variant | C/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 11 | 65706327 | regulatory region variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 10 | 63122540 | downstream gene variant | C/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 16235171 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 11 | 47340914 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 59620724 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 11 | 18632410 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 11 | 1980665 | intron variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 20446178 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 11 | 61510303 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 |