{{Rsnum
|rsid=4977574
|Gene=CDKN2B-AS1
|Chromosome=9
|position=22098575
|Orientation=plus
|GMAF=0.4169
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CDKN2B-AS1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 29.2 | 49.6 | 21.2
| HCB | 24.8 | 53.3 | 21.9
| JPT | 24.8 | 48.7 | 26.5
| YRI | 81.6 | 17.7 | 0.7
| ASW | 59.6 | 35.1 | 5.3
| CHB | 24.8 | 53.3 | 21.9
| CHD | 34.9 | 38.5 | 26.6
| GIH | 29.7 | 50.5 | 19.8
| LWK | 60.0 | 34.5 | 5.5
| MEX | 25.9 | 55.2 | 19.0
| MKK | 58.3 | 37.8 | 3.8
| TSI | 16.7 | 55.9 | 27.5
| HapMapRevision=28
}}{{Report GE
|PubMed=17478681
|Source=journal
|AffyProbeset=SNP_A-2035117
|AffyOrientation=same
|AlleleA=A
|AlleleB=G
|onGW5=1
|rsid=4977574
|ancestral=A
|RiskPopulation=CEU
|RiskAllele=G
|CaseFreq=
|ControlFreq=
|OddsRatioHet=1.30
|OddsRatioHom=1.54
|OddsRatioAll=1.23
|Disease=Coronary artery disease
|DiseaseSymbol=CAD
|OA=1
}}

{{ neighbor
| rsid = 2891168
| distance = 45
}}

rs4977574 increases susceptibility to Coronary artery disease 1.30 times for heterozygotes (A;G) and 1.54 times for homozygotes (G;G) {{PMID|17478681|OA=1
}}

{{PMID|24270849|OA=1
}} [[rs4977574]] was found to be associated with [[myocardial infarction]] based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.
{{PMID Auto GWAS
|PMID=19198609
|Trait=Myocardial infarction (early onset)
|Title=Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
|RiskAllele=G
|Pval=3E-44
|OR=1.29
|ORtxt=[1.25-1.34]
|OA=1
}}
{{PharmGKB
|RSID=rs4977574
|Name_s=
|Gene_s=CDKN2BAS
|Feature=
|Evidence=PubMed ID:19198609; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (Initial Sample Size: 2,967 cases, 3,075 controls; Replication Sample Size: 9,746 cases, 9,746 controls); (Region: 9p21.3; Reported Gene(s): CDKN2A, CDKN2B; Risk Allele: rs4977574-G); (p-value= 3E-44).This variant is associated with Myocardial infarction (early onset).
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739972
}}
{{PharmGKB
|RSID=rs4977574
|Name_s=
|Gene_s=CDKN2BAS
|Feature=
|Evidence=PubMed ID:19198609
|Annotation=In a genome-wide association study this variant (rs4977574) at 9p21.3 was associated with with early-onset myocardial infarction in 2,967 cases and 3,075 controls.
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Curated
|PharmGKB Accession ID=PA162565800
}}
{{PMID Auto
|PMID=21375403
|Title=The Relationship Between Polymorphisms on Chromosome 9p21 and Age of Onset of Coronary Heart Disease in Black and White Women
|OA=1
}}
{{PMID Auto GWAS
|PMID=21378990
|Trait=None
|Title=Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
|RiskAllele=G
|Pval=1E-22
|OR=1.2900
|ORtxt=[1.23-1.36]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21378988
|Trait=None
|Title=A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
|RiskAllele=G
|Pval=2E-25
|OR=1.2000
|ORtxt=[1.16-1.25]
}}

{{PMID Auto
|PMID=22216278
|Title=Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease
|OA=1
}}. In this study of 2,000 patients, [[rs4977574]](G;G) homozygotes had an increased risk (odds ratio) for myocardial infarction of 1.84 (CI: 1.14−3.09, p = 0.011)

{{PMID Auto
|PMID=18987759
|Title=Genetic testing for atherosclerosis risk: inevitability or pipe dream?
|OA=1
}}

{{PMID Auto
|PMID=19214202
|Title=Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.
|OA=1
}}

{{PMID Auto
|PMID=19463184
|Title=Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease.
|OA=1
}}

{{PMID Auto
|PMID=19956433
|Title=Genetics of coronary artery disease: focus on genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20031606
|Title=The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people.
|OA=1
}}

{{PMID Auto
|PMID=20835900
|Title=Genetics of diabetes complications.
|OA=1
}}

{{PMID Auto
|PMID=21242481
|Title=Genetic risk score and risk of myocardial infarction in Hispanics.
|OA=1
}}

{{PMID Auto
|PMID=21347282
|Title=Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
|OA=1
}}

{{PMID Auto
|PMID=22152955
|Title=Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4977574
|overall_frequency_n=40
|overall_frequency_d=128
|overall_frequency=0.3125
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23343465
|Title=Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes
|OA=1
}}

{{PMID Auto
|PMID=23364394
|Title=A genome-wide association study of a coronary artery disease risk variant
}}

{{PMID Auto
|PMID=23561647
|Title=Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction
}}

{{PMID Auto
|PMID=23828831
|Title=The impact of susceptibility loci for coronary artery disease on other vascular domains and recurrence risk
}}

{{PMID Auto
|PMID=23856978
|Title=Higher Frequency of rs4977574 (the G Allele) on Chromosome 9p21.3 in Patients with Myocardial Infarction as Revealed by PCR-RFLP Analysis
}}

{{PMID Auto
|PMID=24069144
|Title=Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction
|OA=1
}}

{{PMID Auto
|PMID=23480785
|Title=Chromosome 9p21 genetic variation explains 13% of cardiovascular disease incidence but does not improve risk prediction.
}}

{{PMID Auto
|PMID=23631657
|Title=Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?
}}

{{PMID Auto
|PMID=24804228
|Title=The chromosome 9p21 variant not predicting long-term cardiovascular mortality in chinese with established coronary artery disease: an eleven-year follow-up study
|OA=1
}}

{{PMID Auto
|PMID=24998078
|Title=Omega-3 fatty acids and the genetic risk of early onset acute coronary syndrome
}}

{{PMID Auto
|PMID=25105296
|Title=Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}