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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 3 | 2007 | 2014 | |||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 3 | 2007 | 2014 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms | 0.800 | 1.000 | 32 | 1989 | 2019 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
Neoplasms | 0.800 | 1.000 | 30 | 1989 | 2019 | ||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
Neoplasms | 0.800 | 1.000 | 16 | 2005 | 2019 | ||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.882 | 0.160 | 1 | 114713911 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2010 | 2010 | |||||||
|
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 | 0.800 | 1.000 | 2 | 2010 | 2010 | ||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.200 | 1 | 114716060 | missense variant | G/A | snv |
|
Neoplasms | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 114716978 | 3 prime UTR variant | G/T | snv | 0.11 |
|
Mental Disorders | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms | 0.800 | 0 | |||||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 0 | |||||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.800 | 0 | ||||||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 0 | |||||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
Neoplasms | 0.780 | 1.000 | 21 | 1989 | 2016 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms | 0.740 | 1.000 | 13 | 1987 | 2017 | |||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
Neoplasms | 0.740 | 1.000 | 11 | 1989 | 2016 | |||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.740 | 1.000 | 5 | 2014 | 2016 | |||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.720 | 1.000 | 10 | 1989 | 2016 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms; Endocrine System Diseases | 0.720 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
Neoplasms | 0.710 | 1.000 | 7 | 1987 | 2016 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 6 | 2000 | 2012 |