MAPKAPK3, MAPK activated protein kinase 3, 7867

N. diseases: 19; N. variants: 8
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: rs886037913
rs886037913 		1.000 3 50644422 missense variant T/C snv
CUI: C4310713
Disease: MACULAR DYSTROPHY, PATTERNED, 3
MACULAR DYSTROPHY, PATTERNED, 3 		0.700 1.000 1 2016 2016
dbSNP: rs375412266
rs375412266 		1.000 0.040 3 50617647 missense variant C/G;T snv 2.1E-04; 4.1E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 0
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0429908
Disease: Susceptibility to tuberculosis
Susceptibility to tuberculosis 		0.700 0
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C3280647
Disease: BACTEREMIA, SUSCEPTIBILITY TO, 2
BACTEREMIA, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.030 1.000 3 2014 2014
dbSNP: rs2239751
rs2239751 		0.882 0.120 3 50610457 5 prime UTR variant T/G snv 9.6E-02 7.1E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2014 2014
dbSNP: rs2239751
rs2239751 		0.882 0.120 3 50610457 5 prime UTR variant T/G snv 9.6E-02 7.1E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2239751
rs2239751 		0.882 0.120 3 50610457 5 prime UTR variant T/G snv 9.6E-02 7.1E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs3792323
rs3792323 		1.000 0.080 3 50622900 intron variant A/T snv 5.3E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2009 2009
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2018 2018
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs414171
rs414171 		0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2018 2018
dbSNP: rs616589
rs616589 		1.000 0.080 3 50626198 intron variant A/G snv 0.77
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2009 2009
dbSNP: rs6768300
rs6768300 		0.925 0.120 3 50611939 5 prime UTR variant C/G snv 0.85
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6768300
rs6768300 		0.925 0.120 3 50611939 5 prime UTR variant C/G snv 0.85
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 < 0.001 1 2014 2014
dbSNP: rs809451
rs809451 		1.000 0.040 3 50613461 intron variant G/A;C snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2014 2014