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 | 1 | 11847114 | missense variant | C/T | snv | 2.2E-04 | 1.6E-04 |
|
0.800 | 0 | |||||||||||
|
1 | 11846764 | intron variant | C/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 1 | 11847114 | missense variant | C/T | snv | 2.2E-04 | 1.6E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 11846008 | stop lost | TT/- | del |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 11847373 | missense variant | T/G | snv | 2.0E-03 | 1.6E-03 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Cardiovascular Diseases | 0.060 | 1.000 | 6 | 2007 | 2019 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||||
|
0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2007 | 2011 | ||||||
|
0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||||
|
0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||||
|
0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||||
|
1.000 | 0.080 | 1 | 11848448 | upstream gene variant | G/C | snv | 1.5E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 |