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 | 0.120 | 19 | 7669883 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.120 | 19 | 7669883 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2003 | 2007 | |||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2003 | 2005 | |||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.240 | 19 | 7669884 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2008 | 2018 | |||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 1.000 | 4 | 2009 | 2017 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 7670254 | missense variant | T/A | snv | 4.1E-04 | 5.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | 19 | 7669625 | intron variant | G/A | snv | 0.39 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 |