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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 15 | 66435104 | missense variant | T/C | snv |
|
0.800 | 1.000 | 2 | 2006 | 2008 | |||||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 2006 | 2008 | ||||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.720 | 1.000 | 14 | 2006 | 2018 | |||||||
|
0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
Neoplasms | 0.720 | 1.000 | 5 | 2011 | 2014 | ||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
Neoplasms | 0.720 | 1.000 | 5 | 2009 | 2015 | ||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.720 | 1.000 | 4 | 1995 | 2016 | ||||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.710 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 2002 | 2017 | ||||||||
|
0.925 | 0.160 | 15 | 66436842 | missense variant | T/C | snv |
|
0.700 | 1.000 | 12 | 2002 | 2017 | |||||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 2006 | 2009 | |||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 7 | 2006 | 2009 | |||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 7 | 2006 | 2009 | |||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 7 | 2006 | 2009 | |||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;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 | 2007 | 2017 | ||||||||
|
0.925 | 0.160 | 15 | 66436842 | missense variant | T/C | 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 | 2018 | ||||||||
|
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 | ||||||||
|
0.807 | 0.320 | 15 | 66435145 | 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 | 4 | 2007 | 2012 | ||||||||
|
0.827 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.040 | 15 | 66481793 | missense variant | G/A | snv |
|
Neoplasms | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
1.000 | 0.040 | 15 | 66436786 | missense variant | T/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 15 | 66485086 | missense variant | C/T | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 15 | 66436839 | missense variant | T/C | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
15 | 66481830 | missense variant | T/C | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||||
|
0.925 | 0.200 | 15 | 66435115 | missense variant | A/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2008 | 2010 |