Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
9 | 2622278 | splice region variant | G/A | snv | 0.37 | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 2628957 | intron variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2628957 | intron variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2622134 | 5 prime UTR variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 2634144 | intron variant | A/G | snv | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2634144 | intron variant | A/G | snv | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2634144 | intron variant | A/G | snv | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2628433 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
9 | 2639745 | intron variant | T/C | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2641107 | intron variant | T/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2641107 | intron variant | T/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2640605 | intron variant | C/T | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2640605 | intron variant | C/T | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2643832 | splice region variant | T/C | snv | 8.1E-03 | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
9 | 2643832 | splice region variant | T/C | snv | 8.1E-03 | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
9 | 2643832 | splice region variant | T/C | snv | 8.1E-03 | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
9 | 2622147 | 5 prime UTR variant | GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 2622147 | 5 prime UTR variant | GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
9 | 2636992 | intron variant | T/C | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2636992 | intron variant | T/C | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 2623615 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 9 | 2621145 | intron variant | T/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |