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: 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: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs8072199
rs8072199 		1.000 0.040 17 27789822 intron variant C/T snv 0.35
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10459953
rs10459953 		0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1060822
rs1060822 		1.000 0.040 17 27765605 synonymous variant A/G snv 0.66 0.68
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 < 0.001 1 2011 2011
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: rs28998802
rs28998802 		0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.810 1.000 3 2012 2016
dbSNP: rs2779249
rs2779249 		0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.020 1.000 2 2012 2020
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		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: 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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2779249
rs2779249 		0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2779249
rs2779249 		0.851 0.200 17 27801555 intron variant C/A snv 0.33
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: rs2779249
rs2779249 		0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28998800
rs28998800 		17 27799060 intron variant T/C snv 1.6E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8070472
rs8070472 		17 27774162 intron variant G/A snv 6.2E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8070472
rs8070472 		17 27774162 intron variant G/A snv 6.2E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0036690
Disease: Septicemia
Septicemia 		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: 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: 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2013 2013
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: rs10459953
rs10459953 		0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2014 2014