Source: BEFREE

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: rs6490121
rs6490121
NOS1
1.000 0.040 12 117270390 intron variant G/A snv 0.64
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.060 1.000 6 2009 2018
dbSNP: rs3782206
rs3782206
NOS1
1.000 0.040 12 117307284 intron variant C/T snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 1.000 3 2008 2017
dbSNP: rs41279104
rs41279104
NOS1
0.827 0.160 12 117439680 intron variant C/T snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 1.000 3 2011 2019
dbSNP: rs478597
rs478597
NOS1
1.000 0.040 12 117313620 intron variant G/A snv 0.35
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.020 1.000 2 2016 2016
dbSNP: rs750444386
rs750444386
NOS1
0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0004096
Disease: Asthma
Asthma 		0.020 1.000 2 2005 2008
dbSNP: rs76980269
rs76980269
NOS1
0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		0.020 1.000 2 2008 2009
dbSNP: rs10744891
rs10744891
NOS1
1.000 0.040 12 117284536 intron variant G/T snv 0.41
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		0.010 1.000 1 2017 2017
dbSNP: rs10774909
rs10774909
NOS1
1.000 0.040 12 117236324 intron variant C/G snv 0.28
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
dbSNP: rs1483757
rs1483757
NOS1
0.925 0.160 12 117323735 intron variant A/G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2011 2011
dbSNP: rs1483757
rs1483757
NOS1
0.925 0.160 12 117323735 intron variant A/G;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2012 2012
dbSNP: rs1483757
rs1483757
NOS1
0.925 0.160 12 117323735 intron variant A/G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2014 2014
dbSNP: rs2139733
rs2139733
NOS1
0.925 0.080 12 117288937 intron variant T/A snv 0.39
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2014 2014
dbSNP: rs2139733
rs2139733
NOS1
0.925 0.080 12 117288937 intron variant T/A snv 0.39
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2012 2012
dbSNP: rs2139733
rs2139733
NOS1
0.925 0.080 12 117288937 intron variant T/A snv 0.39
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2014 2014
dbSNP: rs2293050
rs2293050
NOS1
0.925 0.080 12 117281017 intron variant C/A;G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2014 2014
dbSNP: rs2293050
rs2293050
NOS1
0.925 0.080 12 117281017 intron variant C/A;G;T snv
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2014 2014
dbSNP: rs2293052
rs2293052
NOS1
1.000 0.040 12 117277815 intron variant G/A snv 0.28
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 1.000 1 2017 2017
dbSNP: rs2293054
rs2293054
NOS1
0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs2293054
rs2293054
NOS1
0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2019 2019
dbSNP: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.010 1.000 1 2014 2014
dbSNP: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2018 2018
dbSNP: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.010 1.000 1 2019 2019
dbSNP: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0021122
Disease: Disruptive, Impulse Control, and Conduct Disorders
Disruptive, Impulse Control, and Conduct Disorders 		0.010 1.000 1 2019 2019
dbSNP: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.010 1.000 1 2019 2019
dbSNP: rs2682826
rs2682826
NOS1
0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.010 1.000 1 2014 2014