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: rs10450310
rs10450310 		0.925 0.080 10 52764898 downstream gene variant G/A snv 0.29
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs10450310
rs10450310 		0.925 0.080 10 52764898 downstream gene variant G/A snv 0.29
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs10824792
rs10824792 		10 52766446 3 prime UTR variant C/T snv 0.48
CUI: C0275524
Disease: Coinfection
Coinfection 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs11003123
rs11003123 		0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs11003123
rs11003123 		0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs11003123
rs11003123 		0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs11003123
rs11003123 		0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11003123
rs11003123 		0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30
CUI: C0275524
Disease: Coinfection
Coinfection 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs11003123
rs11003123 		0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		Female Urogenital Diseases and Pregnancy Complications; Infections 0.010 1.000 1 2019 2019
dbSNP: rs11003124
rs11003124 		1.000 0.040 10 52772131 upstream gene variant T/G snv 0.30
CUI: C0275524
Disease: Coinfection
Coinfection 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs11003124
rs11003124 		1.000 0.040 10 52772131 upstream gene variant T/G snv 0.30
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2013 2013
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: 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: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs148078249
rs148078249 		1.000 0.080 10 52771481 missense variant C/T snv 6.4E-05 4.9E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
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: 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: 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