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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.160 | 16 | 69714966 | missense variant | G/A;C | snv | 3.2E-02 | 2.6E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2002 | 2006 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 0.500 | 2 | 2004 | 2006 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 0.500 | 2 | 2004 | 2006 | |||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 0.500 | 2 | 2004 | 2006 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2002 | 2006 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
0.925 | 0.080 | 16 | 69711027 | synonymous variant | A/G | snv | 2.0E-05 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 16 | 69711027 | synonymous variant | A/G | snv | 2.0E-05 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2003 | 2009 | |||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2003 | 2009 | ||||||
|
0.851 | 0.200 | 16 | 69718516 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders | 0.030 | 1.000 | 3 | 2006 | 2010 |