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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 10 | 88948815 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.882 | 0.120 | 10 | 88941794 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 10 | 88941794 | missense variant | G/A | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 10 | 88939542 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 10 | 88939543 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 88947371 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 10 | 88939595 | missense variant | C/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 10 | 88939595 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 10 | 88941252 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 10 | 88941836 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 10 | 88948815 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
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 | |||||||
|
0.882 | 0.160 | 10 | 88967577 | intron variant | C/A | snv | 0.59 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 10 | 88967577 | intron variant | C/A | snv | 0.59 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 10 | 88967577 | intron variant | C/A | snv | 0.59 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |