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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 2 | 212959321 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
3 | 3 | 128597592 | intergenic variant | A/G | snv | 0.13 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 2 | 2009 | 2016 | ||||
|
8 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.882 | 0.160 | 5 | 111099792 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 6 | 31513522 | upstream gene variant | A/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 20 | 57063481 | intergenic variant | T/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.080 | 5 | 132527285 | intron variant | T/G | snv | 0.76 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 3 | 128541707 | downstream gene variant | C/T | snv | 0.18 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 6 | 135102071 | intron variant | T/C | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
3 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 11 | 128315955 | regulatory region variant | G/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 150623061 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
8 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 14 | 93951185 | missense variant | T/C | snv | 3.3E-02 | 3.7E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
6 | 0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 7 | 113142501 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 12 | 4209557 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 128587914 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 7 | 50376454 | intron variant | G/T | snv | 1.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 |