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: rs1060826
rs1060826 		0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 1.000 3 2006 2016
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: rs1137933
rs1137933 		0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
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: 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: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 2010 2015
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 0.500 2 2010 2015
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2010 2018
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 0.500 2 2010 2017
dbSNP: rs2297518
rs2297518 		0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2010 2018
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: rs10459953
rs10459953 		0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital 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: 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
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: rs1060826
rs1060826 		0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1060826
rs1060826 		0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1060826
rs1060826 		0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1137933
rs1137933 		0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1137933
rs1137933 		0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1137933
rs1137933 		0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
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: 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