MAP2K1, mitogen-activated protein kinase kinase 1, 5604
N. diseases: 389; N. variants: 43
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 66481830 | missense variant | T/C | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||||
|
15 | 66436762 | missense variant | T/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||||
|
15 | 66436810 | missense variant | A/C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
15 | 66436814 | missense variant | G/C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
15 | 66449049 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
15 | 66387359 | synonymous variant | G/A | snv | 5.8E-06 | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
15 | 66412111 | intron variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 66489734 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/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 | 1 | 2008 | 2008 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2007 | 2014 |