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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.100 | 0.903 | 31 | 2001 | 2018 | ||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.100 | 1.000 | 10 | 2001 | 2018 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.080 | 0.750 | 8 | 2008 | 2017 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.080 | 0.750 | 8 | 2008 | 2017 | ||||||
|
0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.080 | 1.000 | 8 | 2001 | 2019 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Respiratory Tract Diseases; Nervous System Diseases | 0.060 | 1.000 | 6 | 2007 | 2019 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Nutritional and Metabolic Diseases | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||||
|
0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.060 | 1.000 | 6 | 2009 | 2018 | |||||||
|
0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | |||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 0.750 | 4 | 2005 | 2019 | ||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Neoplasms | 0.040 | 0.250 | 4 | 2012 | 2019 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Neoplasms | 0.040 | 0.250 | 4 | 2012 | 2019 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Cardiovascular Diseases | 0.040 | 0.750 | 4 | 2012 | 2018 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 0.750 | 4 | 2005 | 2018 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.040 | 0.750 | 4 | 2013 | 2019 | ||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||||
|
0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
1 | 65620511 | intron variant | A/T | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 0.500 | 2 | 2003 | 2014 | ||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2001 | 2005 | ||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2015 |