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: rs4795067
rs4795067
NOS2
0.882 0.280 17 27779649 intron variant A/G snv 0.31
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.820 1.000 5 2010 2015
dbSNP: rs1060826
rs1060826
NOS2
0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 1.000 3 2006 2016
dbSNP: rs28998802
rs28998802
NOS2
0.807 0.120 17 27797882 intron variant G/A snv 0.11
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.810 1.000 3 2012 2016
dbSNP: rs2255929
rs2255929
NOS2
1.000 0.040 17 27760941 intron variant T/A snv 0.49
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2006 2008
dbSNP: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.020 1.000 2 2012 2020
dbSNP: rs10459953
rs10459953
NOS2
0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2010 2010
dbSNP: rs10459953
rs10459953
NOS2
0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2014 2014
dbSNP: rs1060826
rs1060826
NOS2
0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2009 2009
dbSNP: rs1060826
rs1060826
NOS2
0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2009 2009
dbSNP: rs1060826
rs1060826
NOS2
0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		0.010 1.000 1 2007 2007
dbSNP: rs1137933
rs1137933
NOS2
0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs1137933
rs1137933
NOS2
0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2016 2016
dbSNP: rs1137933
rs1137933
NOS2
0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2016 2016
dbSNP: rs12720460
rs12720460
NOS2
17 27801261 intron variant ATTT/-;ATTTATTT;ATTTATTTATTT delins
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs17722851
rs17722851
NOS2
0.925 0.040 17 27783810 intron variant T/A snv 9.9E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2009 2009
dbSNP: rs17722851
rs17722851
NOS2
0.925 0.040 17 27783810 intron variant T/A snv 9.9E-02
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		0.010 1.000 1 2009 2009
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 1.000 1 2013 2013
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C1839735
Disease: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 		0.010 1.000 1 2015 2015
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2009 2009
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		0.010 1.000 1 2010 2010
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2010 2010
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2013 2013
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2015 2015
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 1.000 1 2013 2013