TLR2, toll like receptor 2, 7097

N. diseases: 749; N. variants: 15
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: rs121917864
rs121917864 		0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C1968668
Disease: LEPROSY, SUSCEPTIBILITY TO, 3
LEPROSY, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C1834752
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.100 1.000 11 2004 2019
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.080 1.000 8 2010 2019
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.060 0.833 6 2008 2019
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.060 0.833 6 2008 2019
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		Infections 0.060 1.000 6 2007 2019
dbSNP: rs3804099
rs3804099 		0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 0.800 5 2012 2019
dbSNP: rs3804099
rs3804099 		0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 0.800 5 2012 2019
dbSNP: rs3804100
rs3804100 		0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 0.600 5 2012 2019
dbSNP: rs3804100
rs3804100 		0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 0.600 5 2012 2019
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.050 0.600 5 2009 2017
dbSNP: rs3804099
rs3804099 		0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.040 0.750 4 2013 2019
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.040 1.000 4 2006 2011
dbSNP: rs121917864
rs121917864 		0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		Infections 0.030 1.000 3 2002 2005
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.030 1.000 3 2008 2015
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.030 1.000 3 2007 2012
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.030 1.000 3 2008 2015
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		Infections; Cardiovascular Diseases 0.030 0.667 3 2007 2015
dbSNP: rs5743708
rs5743708 		0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever 		Infections; Musculoskeletal Diseases 0.030 1.000 3 2005 2015
dbSNP: rs121917864
rs121917864 		0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2010 2017
dbSNP: rs121917864
rs121917864 		0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1816702
rs1816702 		0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs1898830
rs1898830 		0.807 0.280 4 153687301 intron variant A/G snv 0.30
CUI: C0158945
Disease: Congenital cytomegalovirus infection
Congenital cytomegalovirus infection 		Infections 0.020 1.000 2 2013 2016
dbSNP: rs3804099
rs3804099 		0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2014 2015