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: rs4795067
rs4795067 		0.882 0.280 17 27779649 intron variant A/G snv 0.31
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.820 1.000 5 2010 2015
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: rs2255929
rs2255929 		1.000 0.040 17 27760941 intron variant T/A snv 0.49
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2006 2008
dbSNP: rs2779248
rs2779248 		0.882 0.160 17 27800806 intron variant T/C snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2016 2018
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: rs12720460
rs12720460 		17 27801261 intron variant ATTT/-;ATTTATTT;ATTTATTTATTT delins
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17722851
rs17722851 		0.925 0.040 17 27783810 intron variant T/A snv 9.9E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs17722851
rs17722851 		0.925 0.040 17 27783810 intron variant T/A snv 9.9E-02
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs2248814
rs2248814 		1.000 17 27773295 intron variant A/C;G snv 0.65
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 < 0.001 1 2020 2020
dbSNP: rs2779248
rs2779248 		0.882 0.160 17 27800806 intron variant T/C snv 0.39
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2779248
rs2779248 		0.882 0.160 17 27800806 intron variant T/C snv 0.39
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2779248
rs2779248 		0.882 0.160 17 27800806 intron variant T/C snv 0.39
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2779249
rs2779249 		0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: rs2779249
rs2779249 		0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2017 2017
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: rs28998802
rs28998802 		0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28998802
rs28998802 		0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28998802
rs28998802 		0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28998802
rs28998802 		0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs28998802
rs28998802 		0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4795067
rs4795067 		0.882 0.280 17 27779649 intron variant A/G snv 0.31
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 < 0.001 1 2016 2016