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: rs2293054
rs2293054 		0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2293054
rs2293054 		0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3741475
rs3741475 		1.000 0.040 12 117232109 synonymous variant G/A snv 0.22 0.22
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs750444386
rs750444386 		0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2005 2008
dbSNP: rs750444386
rs750444386 		0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs750444386
rs750444386 		0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs750444386
rs750444386 		0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs750444386
rs750444386 		0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs750444386
rs750444386 		0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0035455
Disease: Rhinitis
Rhinitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs369224010
rs369224010 		1.000 0.080 12 117330605 synonymous variant G/A;C snv 4.5E-05 9.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs754831760
rs754831760 		1.000 0.040 12 117286158 synonymous variant G/A snv 4.0E-05 4.9E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2009
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 < 0.001 1 2004 2004
dbSNP: rs76980269
rs76980269 		0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs375081888
rs375081888 		0.925 0.120 12 117331048 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs375081888
rs375081888 		0.925 0.120 12 117331048 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs946993012
rs946993012 		0.925 0.080 12 117331056 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs946993012
rs946993012 		0.925 0.080 12 117331056 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009