NOS2, nitric oxide synthase 2, 4843

N. diseases: 783; N. variants: 28
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: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C1839735
Disease: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0677659
Disease: Gastro-esophageal reflux disease with esophagitis
Gastro-esophageal reflux disease with esophagitis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2013 2013
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0036221
Disease: Mast-Cell Sarcoma
Mast-Cell Sarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0014869
Disease: Peptic Esophagitis
Peptic Esophagitis 		Digestive System Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs367627018
rs367627018 		17 27787792 missense variant G/C snv 2.8E-05 2.1E-05
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3730017
rs3730017 		1.000 0.080 17 27782076 missense variant G/A snv 3.7E-02 7.2E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs769900089
rs769900089 		1.000 0.080 17 27767837 missense variant C/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0