Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1341139296
rs1341139296
NOS3
7 150998546 missense variant A/G snv 8.2E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs1390448535
rs1390448535
NOS3
7 151007245 missense variant C/G snv 4.2E-06
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 1.000 1 2010 2010
dbSNP: rs368332097
rs368332097
NOS3
7 150993849 missense variant G/A snv 1.3E-05 4.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2015 2015
dbSNP: rs3918166
rs3918166
NOS3
7 150996468 missense variant G/A;C snv 3.9E-03; 8.8E-05
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.010 1.000 1 2009 2009
dbSNP: rs3918166
rs3918166
NOS3
7 150996468 missense variant G/A;C snv 3.9E-03; 8.8E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2009 2009
dbSNP: rs1346272741
rs1346272741
NOS3
1.000 0.040 7 150999064 missense variant A/C snv 4.0E-06
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.010 1.000 1 2018 2018
dbSNP: rs1359984100
rs1359984100
NOS3
1.000 0.040 7 151010603 stop gained C/T snv 7.0E-06
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.010 1.000 1 2016 2016
dbSNP: rs1477816966
rs1477816966
NOS3
1.000 0.040 7 151010703 missense variant A/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2005 2005
dbSNP: rs1541861
rs1541861
NOS3
0.925 0.040 7 151000245 intron variant C/A snv 0.70
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2006 2006
dbSNP: rs1541861
rs1541861
NOS3
0.925 0.040 7 151000245 intron variant C/A snv 0.70
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2853792
rs2853792
NOS3
1.000 0.040 7 151002789 intron variant G/A snv 0.69
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2853796
rs2853796
NOS3
1.000 0.040 7 151006827 intron variant G/T snv 0.52
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2016 2016
dbSNP: rs3793342
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs3793342
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs3793342
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.010 1.000 1 2011 2011
dbSNP: rs3793342
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2011 2011
dbSNP: rs3918227
rs3918227
NOS3
1.000 0.040 7 151003858 3 prime UTR variant C/A snv 6.8E-02
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.010 < 0.001 1 2016 2016
dbSNP: rs753482
rs753482
NOS3
0.925 0.040 7 151009295 intron variant C/A;G;T snv 0.83; 4.0E-05; 3.1E-05; 4.4E-06
CUI: C0020452
Disease: Hyperemia
Hyperemia 		0.010 1.000 1 2014 2014
dbSNP: rs753482
rs753482
NOS3
0.925 0.040 7 151009295 intron variant C/A;G;T snv 0.83; 4.0E-05; 3.1E-05; 4.4E-06
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2008 2008
dbSNP: rs753482
rs753482
NOS3
0.925 0.040 7 151009295 intron variant C/A;G;T snv 0.83; 4.0E-05; 3.1E-05; 4.4E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2014 2014
dbSNP: rs891512
rs891512
NOS3
0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2020 2020
dbSNP: rs891512
rs891512
NOS3
0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
dbSNP: rs891512
rs891512
NOS3
0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2018 2018
dbSNP: rs891512
rs891512
NOS3
0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2017 2017
dbSNP: rs3918226
rs3918226
NOS3
0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.040 1.000 4 2012 2015