NOS1, nitric oxide synthase 1, 4842

N. diseases: 521; N. variants: 38
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: rs6490121
rs6490121 		1.000 0.040 12 117270390 intron variant G/A snv 0.64
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.060 1.000 6 2009 2018
dbSNP: rs3782206
rs3782206 		1.000 0.040 12 117307284 intron variant C/T snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2008 2017
dbSNP: rs41279104
rs41279104 		0.827 0.160 12 117439680 intron variant C/T snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2011 2019
dbSNP: rs28607014
rs28607014 		1.000 0.040 12 117270806 intron variant C/T snv 0.32
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs478597
rs478597 		1.000 0.040 12 117313620 intron variant G/A snv 0.35
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.020 1.000 2 2016 2016
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120 		0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs10744891
rs10744891 		1.000 0.040 12 117284536 intron variant G/T snv 0.41
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs10774909
rs10774909 		1.000 0.040 12 117236324 intron variant C/G snv 0.28
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1483757
rs1483757 		0.925 0.160 12 117323735 intron variant A/G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1483757
rs1483757 		0.925 0.160 12 117323735 intron variant A/G;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1483757
rs1483757 		0.925 0.160 12 117323735 intron variant A/G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2139733
rs2139733 		0.925 0.080 12 117288937 intron variant T/A snv 0.39
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2139733
rs2139733 		0.925 0.080 12 117288937 intron variant T/A snv 0.39
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2014 2014
dbSNP: rs2139733
rs2139733 		0.925 0.080 12 117288937 intron variant T/A snv 0.39
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2291909
rs2291909 		12 117247112 intron variant T/G snv 3.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2291909
rs2291909 		12 117247112 intron variant T/G snv 3.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2293050
rs2293050 		0.925 0.080 12 117281017 intron variant C/A;G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014