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: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.070 1.000 7 2008 2013
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2004 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.050 1.000 5 2011 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.050 1.000 5 2006 2019
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.050 1.000 5 2009 2017
dbSNP: rs1128503
rs1128503 		0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.050 1.000 5 2009 2018
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.050 1.000 5 2007 2017
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.050 1.000 5 2007 2017
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 1.000 4 2002 2015
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2013 2016
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 1.000 4 2009 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2007 2015
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.040 1.000 4 2013 2019
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 1.000 4 2011 2014
dbSNP: rs1128503
rs1128503 		0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 1.000 4 2008 2013
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.040 1.000 4 2006 2013
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2013 2016
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 1.000 4 2002 2019
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.040 1.000 4 2008 2017
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2008 2013
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.030 1.000 3 2010 2016
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2010 2012
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2010 2013
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 1.000 3 2010 2018
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2003 2012