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: C1834155
Disease: HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY
HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY 		0.010 1.000 1 2001 2001
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 0.895 19 2002 2020
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0004096
Disease: Asthma
Asthma 		0.060 0.667 6 2002 2012
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.060 1.000 6 2002 2014
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		0.050 1.000 5 2002 2013
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.050 1.000 5 2002 2010
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.030 0.667 3 2002 2015
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.030 1.000 3 2002 2016
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.020 0.500 2 2002 2010
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.010 1.000 1 2002 2002
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.100 1.000 13 2003 2019
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.769 13 2003 2015
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.769 13 2003 2015
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.070 0.714 7 2003 2016
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: C0042384
Disease: Vasculitis
Vasculitis 		0.020 0.500 2 2003 2015
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0035435
Disease: Rheumatism
Rheumatism 		0.010 1.000 1 2003 2003
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.100 1.000 15 2004 2018