PCSK9, proprotein convertase subtilisin/kexin type 9, 255738
N. diseases: 257; N. variants: 92
Source: ALL
| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 |
|
0.800 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
1 | 55052794 | splice region variant | A/G | snv | 0.42 | 0.49 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
1 | 55052487 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 55058182 | missense variant | G/A;C | snv | 7.2E-03 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.851 | 0.080 | 1 | 55063542 | stop gained | C/A;T | snv | 5.6E-04 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1 | 55050835 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55050331 | intron variant | C/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55054539 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55043912 | missense variant | C/T | snv | 7.4E-04 | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 55040188 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55053009 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.160 | 1 | 55058129 | missense variant | A/G | snv | 1.2E-03 | 4.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 55051628 | non coding transcript exon variant | A/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 55055569 | intron variant | T/A;G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55053501 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 55055191 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55058928 | intron variant | G/A;C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55054592 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 55046322 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.080 | 1 | 55046549 | stop gained | C/G;T | snv | 1.9E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |