PCSK2, proprotein convertase subtilisin/kexin type 2, 5126
N. diseases: 39; N. variants: 13
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 20 | 17441418 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.882 | 0.280 | 20 | 17380837 | intron variant | C/T | snv | 0.13 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.280 | 20 | 17380837 | intron variant | C/T | snv | 0.13 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.280 | 20 | 17380837 | intron variant | C/T | snv | 0.13 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 20 | 17465411 | missense variant | C/T | snv | 8.8E-05 | 3.6E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 20 | 17465411 | missense variant | C/T | snv | 8.8E-05 | 3.6E-04 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 20 | 17465411 | missense variant | C/T | snv | 8.8E-05 | 3.6E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 20 | 17343358 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 20 | 17452434 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 20 | 17457568 | intron variant | T/C | snv | 1.7E-02 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 20 | 17457568 | intron variant | T/C | snv | 1.7E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
20 | 17464490 | non coding transcript exon variant | A/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 20 | 17230988 | intron variant | A/G | snv | 0.45 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 20 | 17244293 | intron variant | A/T | snv | 0.41 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 20 | 17244293 | intron variant | A/T | snv | 0.41 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
20 | 17455828 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 20 | 17453641 | intron variant | G/C | snv | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
20 | 17227859 | intron variant | A/C | snv | 0.56 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 20 | 17465393 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 |