CDKN2A, cyclin dependent kinase inhibitor 2A, 1029
N. diseases: 1214; N. variants: 67
Source: BEFREE ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
Neoplasms | 0.800 | 1.000 | 10 | 1999 | 2016 | |||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
Neoplasms | 0.750 | 1.000 | 5 | 1995 | 2015 | |||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 1995 | 2013 | ||||||||
|
0.882 | 0.200 | 9 | 21974760 | missense variant | C/T | snv |
|
Neoplasms | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 1 | 1994 | 2013 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
Neoplasms | 0.090 | 0.889 | 9 | 2006 | 2018 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
Neoplasms | 0.070 | 1.000 | 7 | 1997 | 2015 | |||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
Neoplasms | 0.060 | 1.000 | 6 | 1997 | 2007 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms | 0.060 | 0.667 | 6 | 2002 | 2011 | |||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
Neoplasms | 0.050 | 1.000 | 5 | 1999 | 2015 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases | 0.050 | 1.000 | 5 | 2012 | 2018 | ||||||||
|
0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.050 | 1.000 | 5 | 2010 | 2018 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.776 | 0.240 | 9 | 21968160 | 3 prime UTR variant | G/A | snv | 0.13 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2015 | 2018 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms | 0.030 | 1.000 | 3 | 1998 | 2019 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2015 | 2018 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms | 0.030 | 0.667 | 3 | 2005 | 2007 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms | 0.030 | 0.667 | 3 | 2005 | 2007 | |||||||
|
0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv |
|
Neoplasms | 0.030 | 0.667 | 3 | 2006 | 2008 | ||||||||
|
0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2003 | 2010 | |||||||
|
1.000 | 0.080 | 9 | 21974791 | missense variant | C/A;G | snv | 4.3E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2008 | 2013 | |||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
Neoplasms | 0.020 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2016 |