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 | 0.040 | 1 | 169681903 | intron variant | G/A | snv | 0.61 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 169763602 | intron variant | C/T | snv | 6.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.160 | 1 | 169727805 | missense variant | G/A | snv | 0.14 | 0.11 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
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; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
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 | |||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1999 | 2019 | ||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
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 | |||||||
|
0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1999 | 2019 | ||||||
|
1 | 169696410 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 169758741 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
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 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
Infections | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 |