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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 11113444 | missense variant | C/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.060 | 1.000 | 6 | 1998 | 2008 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2001 | 2003 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 2 | 2001 | 2014 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases | 0.100 | 1.000 | 10 | 2004 | 2020 | ||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 |