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: 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: 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: 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: 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: 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: 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: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2017 2017
dbSNP: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.010 1.000 1 2012 2012
dbSNP: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.010 1.000 1 2012 2012
dbSNP: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2015 2015
dbSNP: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.010 1.000 1 2012 2012
dbSNP: rs2779249
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 1.000 1 2017 2017
dbSNP: rs9282801
rs9282801
NOS2
1.000 0.040 17 27769447 intron variant C/A snv 0.32
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 1.000 1 2015 2015
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: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		0.010 < 0.001 1 2011 2011
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: 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: rs8072199
rs8072199
NOS2
1.000 0.040 17 27789822 intron variant C/T snv 0.35
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2010 2010
dbSNP: rs944722
rs944722
NOS2
1.000 0.080 17 27765011 intron variant C/T snv 0.67
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2014 2014
dbSNP: rs9895831
rs9895831
NOS2
17 27762239 intron variant C/T snv 0.48
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
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: 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