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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 15 | 66472304 | intron variant | AA/-;A;AAA;AAAA | delins | 0.24 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
15 | 66449049 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.120 | 15 | 66436613 | intron variant | A/C;G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 15 | 66458277 | intron variant | A/C | snv | 0.20 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 15 | 66426943 | intron variant | G/A | snv | 0.27 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 15 | 66426943 | intron variant | G/A | snv | 0.27 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 15 | 66426943 | intron variant | G/A | snv | 0.27 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 15 | 66404397 | intron variant | A/C;G | snv | 0.44 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 15 | 66404397 | intron variant | A/C;G | snv | 0.44 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 15 | 66404397 | intron variant | A/C;G | snv | 0.44 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
15 | 66412111 | intron variant | G/A | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 15 | 66469947 | intron variant | T/C | snv | 0.31 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 15 | 66468004 | intron variant | A/G | snv | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 15 | 66468004 | intron variant | A/G | snv | 0.21 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
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 | |||||||
|
0.827 | 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 | ||||||||
|
0.925 | 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 |