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: rs769900089
rs769900089
NOS2
1.000 0.080 17 27767837 missense variant C/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs10459953
rs10459953
NOS2
0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		0.010 < 0.001 1 2011 2011
dbSNP: rs1060822
rs1060822
NOS2
1.000 0.040 17 27765605 synonymous variant A/G snv 0.66 0.68
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		0.010 < 0.001 1 2011 2011
dbSNP: rs2248814
rs2248814
NOS2
1.000 17 27773295 intron variant A/C;G snv 0.65
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon 		0.010 < 0.001 1 2020 2020
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		0.010 < 0.001 1 2010 2010
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0677659
Disease: Gastro-esophageal reflux disease with esophagitis
Gastro-esophageal reflux disease with esophagitis 		0.010 < 0.001 1 2008 2008
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0014869
Disease: Peptic Esophagitis
Peptic Esophagitis 		0.010 < 0.001 1 2008 2008
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 < 0.001 1 2008 2008
dbSNP: rs4795067
rs4795067
NOS2
0.882 0.280 17 27779649 intron variant A/G snv 0.31
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		0.010 < 0.001 1 2016 2016
dbSNP: rs4795067
rs4795067
NOS2
0.882 0.280 17 27779649 intron variant A/G snv 0.31
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 < 0.001 1 2016 2016
dbSNP: rs1137933
rs1137933
NOS2
0.882 0.160 17 27778906 synonymous variant G/A snv 0.20 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 0.500 2 2016 2018
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 2010 2015
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 0.500 2 2010 2015
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 0.500 2 2010 2018
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 0.500 2 2010 2017
dbSNP: rs2297518
rs2297518
NOS2
0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 0.500 2 2010 2018
dbSNP: rs2779248
rs2779248
NOS2
0.882 0.160 17 27800806 intron variant T/C snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 0.500 2 2016 2018
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