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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Behavior and Behavior Mechanisms | 0.030 | 0.667 | 3 | 2006 | 2011 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Behavior and Behavior Mechanisms | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2002 | 2005 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.060 | 1.000 | 6 | 2000 | 2016 | ||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.040 | 1.000 | 4 | 2002 | 2018 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.935 | 46 | 2001 | 2019 | ||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.100 | 0.943 | 35 | 2001 | 2019 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||
|
0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.882 | 0.120 | 1 | 11787277 | 3 prime UTR variant | -/AGA | delins |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |