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 | 8 | 19965299 | intron variant | C/T | snv | 9.5E-02; 2.1E-04 | 9.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 8 | 19965681 | 3 prime UTR variant | T/C | snv | 4.0E-02 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
3 | 8 | 19967357 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 8 | 19949120 | intron variant | T/C | snv | 8.4E-02 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
3 | 8 | 19943601 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19967052 | 3 prime UTR variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
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 | |||||
|
3 | 8 | 19954456 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19947085 | intron variant | A/G | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19945458 | intron variant | C/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19945200 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19945383 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 8 | 19958045 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 8 | 19960925 | missense variant | C/A;T | snv | 0.13; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19966560 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 8 | 19945582 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19967557 | downstream gene variant | T/A | snv | 0.14 | 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 | 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 |