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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 19 | 7259335 | intron variant | T/C;G | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 28036410 | missense variant | T/C | snv | 0.31 | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 16 | 49734135 | intron variant | C/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 22571195 | missense variant | A/G | snv | 0.18 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 8 | 57876522 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 57757519 | 5 prime UTR variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 12 | 123321672 | missense variant | C/T | snv | 0.19 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 15 | 74918801 | downstream gene variant | -/CA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 12 | 20047028 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 112646431 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 12 | 50116154 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 11 | 65706327 | regulatory region variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 4130519 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 60630968 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 96381261 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 65024342 | intergenic variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 115490635 | intergenic variant | G/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 12 | 90084874 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 120682642 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 15 | 25860455 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 130396222 | intron variant | T/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 11 | 61510303 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 13481937 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 227064925 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 201755384 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |