MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
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: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1994 2012
dbSNP: rs1800451
rs1800451 		0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1800451
rs1800451 		0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.050 1.000 5 2003 2018
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 1.000 4 2010 2017
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2010 2013
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.030 0.667 3 2014 2019
dbSNP: rs1800451
rs1800451 		0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.030 1.000 3 2011 2019
dbSNP: rs7096206
rs7096206 		0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2011 2019
dbSNP: rs7096206
rs7096206 		0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.030 1.000 3 2014 2018
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.020 1.000 2 2017 2019
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2017 2019
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.020 0.500 2 2017 2019
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2002 2012
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2014 2015
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.020 1.000 2 2005 2017
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2014 2015
dbSNP: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.020 1.000 2 2019 2019
dbSNP: rs562962093
rs562962093 		0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2015 2017
dbSNP: rs7095891
rs7095891 		0.882 0.120 10 52771701 upstream gene variant G/A snv 0.30
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.020 1.000 2 2019 2019
dbSNP: rs7096206
rs7096206 		0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2011 2012
dbSNP: rs7096206
rs7096206 		0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.020 0.500 2 2014 2019