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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.700 | 0 | |||||||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.700 | 0 | |||||||||||
|
6 | 31577157 | missense variant | C/T | snv | 8.1E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2003 | 2005 | ||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
Wounds and Injuries | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||
|
0.882 | 0.080 | 6 | 31577184 | missense variant | G/A;T | snv | 1.6E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 6 | 31577184 | missense variant | G/A;T | snv | 1.6E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 |
|
Infections | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.200 | 6 | 31577481 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2006 | 2008 |