MAPK1, mitogen-activated protein kinase 1, 5594

N. diseases: 1059; N. variants: 13
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.
dbSNP: rs2283792
rs2283792 		1.000 0.080 22 21776836 intron variant T/G snv 0.54
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.800 1.000 2 2011 2013
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.710 1.000 2 2015 2016
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17759796
rs17759796 		22 21835874 intron variant C/A snv 0.11
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519911
rs1057519911 		0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11913721
rs11913721 		1.000 0.040 22 21855846 intron variant A/C snv 0.34
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13515
rs13515 		1.000 0.040 22 21761597 3 prime UTR variant C/T snv 0.16
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1390282714
rs1390282714 		0.925 0.080 22 21769233 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1390282714
rs1390282714 		0.925 0.080 22 21769233 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2266966
rs2266966 		1.000 0.120 22 21767265 intron variant T/C;G snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5999521
rs5999521 		1.000 0.120 22 21792110 intron variant A/G snv 0.54
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5999749
rs5999749 		0.925 0.080 22 21833371 intron variant A/C;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs5999749
rs5999749 		0.925 0.080 22 21833371 intron variant A/C;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs5999749
rs5999749 		0.925 0.080 22 21833371 intron variant A/C;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs6928
rs6928 		0.925 0.080 22 21760715 3 prime UTR variant C/G snv 0.49
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs6928
rs6928 		0.925 0.080 22 21760715 3 prime UTR variant C/G snv 0.49
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs8136867
rs8136867 		0.882 0.080 22 21850504 intron variant G/A snv 0.55
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs8136867
rs8136867 		0.882 0.080 22 21850504 intron variant G/A snv 0.55
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2013 2013