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 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 15 | 66436824 | missense variant | C/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 15 | 66435105 | missense variant | T/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 15 | 66435105 | missense variant | T/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 15 | 66435105 | missense variant | T/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 15 | 66435105 | missense variant | T/G | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | ||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
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 | 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 | ||||||||
|
0.851 | 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 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |