{{Rsnum
|rsid=1122608
|Gene=SMARCA4
|Chromosome=19
|position=11052925
|Orientation=plus
|GMAF=0.1391
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=SMARCA4
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 56.6 | 35.4 | 8.0
| HCB | 80.9 | 16.2 | 2.9
| JPT | 80.5 | 19.5 | 0.0
| YRI | 98.6 | 1.4 | 0.0
| ASW | 94.7 | 5.3 | 0.0
| CHB | 80.9 | 16.2 | 2.9
| CHD | 87.2 | 11.9 | 0.9
| GIH | 54.5 | 42.6 | 3.0
| LWK | 94.5 | 5.5 | 0.0
| MEX | 72.4 | 19.0 | 8.6
| MKK | 89.7 | 10.3 | 0.0
| TSI | 53.9 | 39.2 | 6.9
| HapMapRevision=28
}}

{{PMID Auto GWAS
  |PMID=24262325
  |Trait=Coronary artery disease
  |Title=Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
  |RiskAllele=T
  |Pval=3E-11
  |OR=1.14
  |ORtxt=[1.09-1.18]
  }}
{{PMID Auto GWAS
|PMID=21378990
|Trait=Coronary heart disease
|Title=Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
|RiskAllele=G
|Pval=1E-9
|OR=1.1400
|ORtxt=[1.09-1.18]
|OA=1
}}
{{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=2E-9
|OR=1.15
|ORtxt=[1.10-1.20]
|OA=1
}}

{{PharmGKB
|RSID=rs1122608
|Name_s=
|Gene_s=SMARCA4
|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: 19p13.2; Reported Gene(s): LDLR; Risk Allele: rs1122608-G); (p-value= 0.000000002).This variant is associated with Myocardial infarction (early onset).
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739967
}}

{{PharmGKB
|RSID=rs1122608
|Name_s=
|Gene_s=SMARCA4
|Feature=
|Evidence=PubMed ID:19198609
|Annotation=In a genome-wide association study this variant (rs1122608) near LDLR 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=PA162565804
}}
[[Coronary Heart Disease]]

{{PMID Auto
|PMID=24219970
|Title=Common genetic variants do not associate with CAD in familial hypercholesterolemia
}}
{{PMID Auto
|PMID=24190014
|Title=BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3
|OA=1
}}
{{PMID Auto
|PMID=23380588
|Title=Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis.
}}
{{PMID Auto
|PMID=22199011
|Title=Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies
|OA=1
}}
{{PMID Auto
|PMID=20835900
|Title=Genetics of diabetes complications.
|OA=1
}}
{{PMID Auto
|PMID=20810930
|Title=Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile
}}
{{PMID Auto
|PMID=19956433
|Title=Genetics of coronary artery disease: focus on genome-wide association studies.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1122608
|overall_frequency_n=20
|overall_frequency_d=128
|overall_frequency=0.15625
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=18
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}