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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.080 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2005 | 2013 | |||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2005 | 2016 | |||||||
|
0.925 | 0.080 | 11 | 116790814 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.120 | 11 | 116790772 | missense variant | C/T | snv | 5.0E-02 | 5.5E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2006 | 2007 | |||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Nutritional and Metabolic Diseases | 0.070 | 1.000 | 7 | 2007 | 2016 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.060 | 1.000 | 6 | 2007 | 2015 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Nutritional and Metabolic Diseases | 0.050 | 1.000 | 5 | 2007 | 2012 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Cardiovascular Diseases | 0.050 | 0.800 | 5 | 2007 | 2018 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.720 | 1.000 | 3 | 2008 | 2019 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2008 | 2014 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2008 | 2017 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||||
|
0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2008 | 2010 |