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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 1 | 65636776 | frameshift variant | -/AG | delins |
|
0.700 | 0 | |||||||||||||
|
1 | 65615104 | intron variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 65615104 | intron variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 1 | 65442790 | intron variant | A/C | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 1 | 65572419 | missense variant | A/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 1 | 65621389 | missense variant | A/C;G | snv | 8.0E-06; 2.0E-05 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
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 | ||||||
|
0.554 | 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 | |||||||
|
0.627 | 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 | ||||||
|
0.627 | 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 |