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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.800 | 1.000 | 12 | 2008 | 2019 | ||||
|
4 | 1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
3 | 1 | 55052487 | intron variant | C/A;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
3 | 1 | 55052794 | splice region variant | A/G | snv | 0.42 | 0.49 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.800 | 1.000 | 3 | 2012 | 2017 | |||
|
7 | 0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
6 | 0.851 | 0.080 | 1 | 55063542 | stop gained | C/A;T | snv | 5.6E-04 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 55058182 | missense variant | G/A;C | snv | 7.2E-03 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 1 | 55053501 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
3 | 1 | 55050835 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 55050331 | intron variant | C/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1 | 55054539 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 55052267 | non coding transcript exon variant | G/A;T | snv | 5.2E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 55055522 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 55043912 | missense variant | C/T | snv | 7.4E-04 | 1.5E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1 | 55040188 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 55053009 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 0.851 | 0.160 | 1 | 55058129 | missense variant | A/G | snv | 1.2E-03 | 4.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1 | 55055569 | intron variant | T/A;G | snv | 0.51 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 55057688 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 55055191 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1 | 55058928 | intron variant | G/A;C | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 55061806 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2012 | 2012 |