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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.070 | 1.000 | 7 | 1999 | 2019 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.070 | 1.000 | 7 | 1999 | 2019 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.060 | 1.000 | 6 | 1999 | 2012 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.060 | 1.000 | 6 | 1999 | 2012 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2009 | 2014 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2003 | 2009 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2009 | 2014 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2003 | 2009 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||||
|
0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1 | 169696410 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1999 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1999 | 2019 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||
|
0.925 | 0.120 | 1 | 169793666 | missense variant | T/A;G | snv | 4.1E-06; 0.19 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |