Source: ALL

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: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2005 2005
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		0.050 0.800 5 2001 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 1.000 2 2004 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.030 0.667 3 2003 2008
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		0.010 1.000 1 2008 2008
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0747845
Disease: early pregnancy
early pregnancy 		0.010 < 0.001 1 2008 2008
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2008 2008
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 1.000 1 2008 2008