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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 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 | |||||||||
|
0.925 | 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 | ||||||||
|
15 | 66449049 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.807 | 0.240 | 15 | 66436837 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 15 | 66485125 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 66412111 | intron variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
15 | 66489734 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 15 | 66436759 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 15 | 66436837 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 15 | 66436837 | missense variant | GC/TT | mnv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.160 | 15 | 66436818 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.240 | 15 | 66436837 | missense variant | G/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
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 | |||||||
|
0.807 | 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 | ||||||||
|
0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 15 | 66436818 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 15 | 66436818 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 15 | 66435103 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 |