CHI3L1, chitinase 3 like 1, 1116

N. diseases: 420; N. variants: 9
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: rs903357
rs903357 		1 203178482 upstream gene variant G/A snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12141494
rs12141494 		1.000 0.080 1 203182297 intron variant G/A snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs880633
rs880633 		0.925 0.160 1 203183673 missense variant T/C snv 0.45 0.41
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 2011 2011
dbSNP: rs880633
rs880633 		0.925 0.160 1 203183673 missense variant T/C snv 0.45 0.41
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10920578
rs10920578 		1 203184966 intron variant C/T snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1538372
rs1538372 		1.000 0.080 1 203185404 intron variant A/G snv 0.65 0.67
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.090 0.889 9 2009 2019
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.040 1.000 4 2009 2012
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0085129
Disease: Bronchial Hyperreactivity
Bronchial Hyperreactivity 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009