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 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 |
|
Neoplasms | 0.710 | 1.000 | 3 | 2001 | 2014 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 2 | 1997 | 2016 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 13 | 1989 | 2014 | ||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.700 | 1.000 | 10 | 1989 | 2014 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 9 | 1984 | 2014 | ||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 9 | 1989 | 2014 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2006 | 2016 | |||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2006 | 2016 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 2006 | 2016 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 7 | 1987 | 2016 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2000 | 2010 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2004 | 2009 | |||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 4 | 2002 | 2013 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.882 | 0.160 | 1 | 114713941 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |