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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.100 | 0.947 | 19 | 2005 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.800 | 1.000 | 19 | 2002 | 2019 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 16 | 2005 | 2015 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.100 | 1.000 | 15 | 2011 | 2019 | ||||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2006 | 2014 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 11 | 2005 | 2014 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.100 | 1.000 | 10 | 2004 | 2019 | ||||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 9 | 2006 | 2018 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.090 | 0.889 | 9 | 2010 | 2017 | ||||||||
|
0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2005 | 2014 | ||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2005 | 2014 | ||||||||
|
0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2005 | 2014 | ||||||||
|
0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.710 | 1.000 | 8 | 2006 | 2013 | ||||||||
|
0.851 | 0.320 | 12 | 25225627 | missense variant | G/A | snv | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 2005 | 2011 | |||||||
|
0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 2005 | 2011 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.880 | 1.000 | 8 | 2011 | 2019 | ||||||||
|
0.925 | 0.160 | 12 | 25245372 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 2007 | 2014 | ||||||||
|
0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 7 | 2006 | 2011 | ||||||||
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.710 | 1.000 | 7 | 2006 | 2008 | ||||||||
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 7 | 2006 | 2008 | ||||||||
|
0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 7 | 2006 | 2011 | ||||||||
|
0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 7 | 2006 | 2014 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.770 | 1.000 | 7 | 2011 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.070 | 1.000 | 7 | 2011 | 2019 | ||||||||
|
0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2006 | 2011 |