| 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 | 8 | 19945573 | intron variant | T/C | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19946291 | intron variant | A/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19930017 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19949120 | intron variant | T/C | snv | 8.4E-02 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||||
|
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 | |||
|
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 | |||
|
3 | 8 | 19960925 | missense variant | C/A;T | snv | 0.13; 4.0E-06 | 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 | |||||
|
3 | 1.000 | 0.080 | 8 | 19966452 | 3 prime UTR variant | C/T | snv | 0.15 | 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 | |||||||
|
1 | 1.000 | 0.040 | 8 | 19967156 | 3 prime UTR variant | C/T | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2019 | ||||
|
3 | 8 | 19966560 | 3 prime UTR variant | A/G;T | snv | 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 | 8 | 19965681 | 3 prime UTR variant | T/C | snv | 4.0E-02 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 8 | 19966534 | 3 prime UTR variant | C/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 8 | 19965319 | 3 prime UTR variant | G/A | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 8 | 19967357 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 8 | 19967557 | downstream gene variant | T/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19967385 | downstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |