PROZ, protein Z, vitamin K dependent plasma glycoprotein, 8858
N. diseases: 15; N. variants: 11
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 113159007 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 113165471 | intron variant | A/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
13 | 113165634 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 13 | 113165199 | intron variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
13 | 113159539 | intron variant | A/G | snv | 0.17 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 13 | 113159911 | intron variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 13 | 113159911 | intron variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 13 | 113164394 | intron variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 13 | 113164394 | intron variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 13 | 113164394 | intron variant | A/C;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 13 | 113165199 | intron variant | G/A | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 13 | 113165199 | intron variant | G/A | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
13 | 113171786 | missense variant | G/A;C | snv | 2.4E-02; 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
13 | 113160151 | stop gained | G/A;C;T | snv | 4.0E-06; 2.0E-05 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 13 | 113164695 | intron variant | T/A | snv | 0.26 | 0.19 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |