| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
2 | 21018633 | intron variant | A/G | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
2 | 21011100 | missense variant | T/C | snv | 3.1E-02 | 2.9E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
2 | 21021128 | intron variant | G/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
2 | 21026844 | missense variant | C/T | snv | 2.7E-02 | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 21042823 | intron variant | T/C | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21018872 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21024339 | 3 prime UTR variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21004511 | intron variant | C/G | snv | 0.16 | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 21044338 | upstream gene variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21014914 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 21014366 | intron variant | A/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21036740 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21040767 | intron variant | T/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21037729 | intron variant | G/A | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21028168 | intron variant | T/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 21039555 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |