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 | 0.080 | 18 | 60372015 | missense variant | G/A | snv | 9.0E-04 | 6.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.120 | 18 | 60371808 | missense variant | C/T | snv | 1.6E-05 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 18 | 60371943 | missense variant | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 18 | 60371744 | missense variant | G/T | snv | 6.9E-04 | 3.0E-03 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1.000 | 0.080 | 18 | 60371940 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.810 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.080 | 18 | 60371731 | missense variant | G/C | snv | 5.2E-05 | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.080 | 18 | 60371631 | missense variant | T/C | snv | 1.6E-04 | 4.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |