rs2293050

Homo sapiens
C>T
NOS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0396 (11817/29834,GnomAD)
T=0381 (11098/29118,TOPMED)
T=0420 (2101/5008,1000G)
T=0444 (1713/3854,ALSPAC)
T=0445 (1651/3708,TWINSUK)
chr12:117281017 (GRCh38.p7) (12q24.22)
AD
GWASdb2
6   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.117281017C>T
GRCh37.p13 chr 12NC_000012.11:g.117718822C>T
NOS1 RefSeqGeneNG_011991.2:g.85761G>A

Gene: NOS1, nitric oxide synthase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NOS1 transcript variant 1NM_000620.4:c.N/AIntron Variant
NOS1 transcript variant 3NM_001204213.1:c.N/AIntron Variant
NOS1 transcript variant 4NM_001204214.1:c.N/AIntron Variant
NOS1 transcript variant 2NM_001204218.1:c.N/AIntron Variant
NOS1 transcript variant X2XM_011538398.2:c.N/AIntron Variant
NOS1 transcript variant X1XM_017019345.1:c.N/AIntron Variant
NOS1 transcript variant X3XM_017019346.1:c.N/AIntron Variant
NOS1 transcript variant X4XM_017019347.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.722T=0.278
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.566T=0.434
1000GenomesEuropeSub1006C=0.585T=0.415
1000GenomesGlobalStudy-wide5008C=0.580T=0.420
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.556T=0.444
The Genome Aggregation DatabaseAfricanSub8692C=0.683T=0.317
The Genome Aggregation DatabaseAmericanSub838C=0.430T=0.570
The Genome Aggregation DatabaseEast AsianSub1604C=0.605T=0.395
The Genome Aggregation DatabaseEuropeSub18398C=0.575T=0.424
The Genome Aggregation DatabaseGlobalStudy-wide29834C=0.603T=0.396
The Genome Aggregation DatabaseOtherSub302C=0.540T=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.618T=0.381
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.555T=0.445
PMID Title Author Journal
24668187Variants in neuronal nitric oxide synthase gene may contribute to increased ischemic stroke susceptibility in a Han Chinese population.He HCell Biochem Biophys
26949676Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population.Yoo SDAnn Rehabil Med
22153699Variants within the nitric oxide synthase 1 gene are associated with stroke susceptibility.Manso HAtherosclerosis
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
26114387Gene-Diet Interaction between SIRT6 and Soybean Intake for Different Levels of Pulse Wave Velocity.Sun KInt J Mol Sci
18787196Segment-specific genetic effects on carotid intima-media thickness: the Northern Manhattan study.Liao YCStroke

P-Value

SNP ID p-value Traits Study
rs22930508.7E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2293050 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2293050 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr12117717406117718135E070-687
chr12117731961117732182E07013139
chr12117732220117732413E07013398
chr12117732542117732596E07013720
chr12117674023117674870E073-43952
chr12117731961117732182E08113139
chr12117731961117732182E08213139