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 | 11 | 73975612 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.120 | 11 | 73975612 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 1998 | 1998 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 0.700 | 10 | 1998 | 2018 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.080 | 0.625 | 8 | 1997 | 2014 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 2005 | 2016 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Endocrine System Diseases | 0.030 | 1.000 | 3 | 2008 | 2016 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 1998 | 2002 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 1997 | 1997 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |