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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 10 | 88941794 | missense variant | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 12 | 2007 | 2017 | |||||||
|
0.925 | 0.120 | 10 | 88943813 | missense variant | C/G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 10 | 2007 | 2017 | |||||||
|
0.925 | 0.120 | 10 | 88939543 | missense variant | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 10 | 2007 | 2017 | |||||||
|
0.925 | 0.120 | 10 | 88939542 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 8 | 2007 | 2017 | ||||||||
|
0.882 | 0.120 | 10 | 88939680 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 8 | 2007 | 2017 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
0.800 | 1.000 | 6 | 2010 | 2013 | |||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 10 | 88948815 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 9 | 2010 | 2015 | ||||||||
|
1.000 | 0.120 | 10 | 88941291 | missense variant | C/T | snv | 7.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2007 | 2017 | |||||||
|
0.925 | 0.120 | 10 | 88948816 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
1.000 | 0.120 | 10 | 88941384 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2007 | 2017 | ||||||||
|
1.000 | 0.120 | 10 | 88938074 | missense variant | G/T | snv | 6.0E-05 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2007 | 2017 | ||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2009 | 2013 | |||||||||
|
0.882 | 0.160 | 10 | 88941310 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2014 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 88943813 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2007 | 2012 | ||||||||
|
0.925 | 0.120 | 10 | 88948816 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2011 | |||||||||
|
0.882 | 0.120 | 10 | 88939680 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 10 | 88947270 | missense variant | G/A;C | snv | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |