MPO, myeloperoxidase, 4353

N. diseases: 653; N. variants: 25
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: rs119469012
rs119469012 		1.000 0.080 17 58272825 missense variant A/C;G snv
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs972427414
rs972427414 		0.882 0.120 17 58279379 missense variant A/G snv
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2011 2012
dbSNP: rs972427414
rs972427414 		0.882 0.120 17 58279379 missense variant A/G snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2011 2012
dbSNP: rs2107545
rs2107545 		0.925 0.160 17 58282757 upstream gene variant A/G snv 0.28
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2107545
rs2107545 		0.925 0.160 17 58282757 upstream gene variant A/G snv 0.28
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs376919235
rs376919235 		1.000 0.080 17 58279366 synonymous variant A/G snv 1.4E-05 7.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 1 1998 1998
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs972427414
rs972427414 		0.882 0.120 17 58279379 missense variant A/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2243828
rs2243828 		0.925 0.080 17 58281523 upstream gene variant A/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2243828
rs2243828 		0.925 0.080 17 58281523 upstream gene variant A/G;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs7208693
rs7208693 		0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7208693
rs7208693 		0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7208693
rs7208693 		0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7208693
rs7208693 		0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs119469013
rs119469013 		1.000 0.080 17 58273534 missense variant C/A;T snv 4.0E-06
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1351260902
rs1351260902 		1.000 0.080 17 58279839 missense variant C/G;T snv
CUI: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2333227
rs2333227 		0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2012 2018
dbSNP: rs2333227
rs2333227 		0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2008 2013
dbSNP: rs2333227
rs2333227 		0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2012 2018
dbSNP: rs2333227
rs2333227 		0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 0.500 2 2008 2013