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: 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: rs6691378
rs6691378 		0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19
CUI: C0677898
Disease: invasive cancer
invasive cancer 		Neoplasms 0.010 1.000 1 2014 2014
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: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs10399805
rs10399805 		0.851 0.240 1 203186870 upstream gene variant G/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 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: 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: 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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs4950928
rs4950928 		0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2017 2017
dbSNP: rs6691378
rs6691378 		0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs6691378
rs6691378 		0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
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: rs10399805
rs10399805 		0.851 0.240 1 203186870 upstream gene variant G/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: rs10399805
rs10399805 		0.851 0.240 1 203186870 upstream gene variant G/A;T snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs10399805
rs10399805 		0.851 0.240 1 203186870 upstream gene variant G/A;T snv
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10399805
rs10399805 		0.851 0.240 1 203186870 upstream gene variant G/A;T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2019 2019