PCSK5, proprotein convertase subtilisin/kexin type 5, 5125
N. diseases: 57; N. variants: 19
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 75927370 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
9 | 75927370 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||||
|
9 | 75904083 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
9 | 75896973 | intron variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
9 | 76125437 | intron variant | T/G | snv | 0.49 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 9 | 76032363 | intron variant | G/A | snv | 2.5E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 76038907 | intron variant | T/C | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 9 | 76036575 | intron variant | A/G | snv | 0.12 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 76177783 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 76032285 | intron variant | G/A | snv | 2.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 76250384 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 9 | 76029155 | intron variant | C/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
9 | 75895907 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 75895907 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 9 | 75984217 | intron variant | C/T | snv | 0.68 |
|
Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 9 | 76037072 | intron variant | T/A;C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
9 | 76130261 | intron variant | G/A | snv | 0.13 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 76130261 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 75890776 | 5 prime UTR variant | C/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 76141970 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 9 | 76036575 | intron variant | A/G | snv | 0.12 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 9 | 76259853 | intron variant | A/C | snv | 0.79 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 9 | 76259853 | intron variant | A/C | snv | 0.79 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
9 | 76254665 | intron variant | G/A | snv | 0.30 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2012 | 2012 |