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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.800 | 1.000 | 2 | 2012 | 2019 | |||
|
7 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.800 | 1.000 | 6 | 2007 | 2019 | |||
|
3 | 0.827 | 0.200 | 8 | 19961566 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
5 | 0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.080 | 8 | 19955669 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
3 | 1.000 | 0.080 | 8 | 19966452 | 3 prime UTR variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 8 | 19957678 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 8 | 19966137 | 3 prime UTR variant | A/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 8 | 19953276 | intron variant | C/A | snv | 9.8E-02 | 8.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 1.000 | 0.080 | 8 | 19966534 | 3 prime UTR variant | C/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 19967156 | 3 prime UTR variant | C/T | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2019 | ||||
|
3 | 1.000 | 0.040 | 8 | 19953906 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 8 | 19955301 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 8 | 19956191 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 8 | 19962922 | intron variant | T/C | snv | 9.4E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2008 | 2019 | ||||||
|
4 | 8 | 19962025 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 8 | 19967357 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 8 | 19943601 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19966106 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 8 | 19938278 | intron variant | T/C | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19938619 | intron variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19939160 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19954390 | intron variant | T/C | snv | 0.17 | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 |