rs1122608, SMARCA4

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation BEFREE Association of rs1122608 with Coronary Artery Disease and Lipid Profile: A Meta-analysis. 27664493 2016
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation BEFREE To explore the association of rs11206510 (PCSK9 gene) and rs1122608 (LDLR gene) polymorphisms with coronary heart disease (CHD) in Han Chinese. 23380588 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASDB Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASCAT Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.820 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.810 GeneticVariation BEFREE We also found three SNPs rs1122608, rs3798220 and rs579459 were significantly associated with risk factors of MI, although they had no association with MI in Chinese population. 24475106 2014
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.810 GeneticVariation GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.810 GeneticVariation GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE The rs1122608 is associated with the risk of CAD and TG level. 27664493 2016
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in the BRG1/SMARCA4 gene was previously associated with coronary artery disease (CAD). 24190014 2014
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation GWASDB Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.710 GeneticVariation GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.710 GeneticVariation BEFREE BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3. 24190014 2014
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
0.700 GeneticVariation GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE The genotype "G/A-A/A" of rs11879293 and the genotype "G/T-T/T" of rs1122608 in SMARCA4 were significantly associated with decreasing the hypertension risk. 31507094 2019
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.010 GeneticVariation BEFREE In the Chinese Han study population, the mutant GT and TT genotypes and minor T allele of rs1122608 were positively correlated with the risk of AMI. 29615549 2018
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Association of rs1122608 with Coronary Artery Disease and Lipid Profile: A Meta-analysis. 27664493 2016
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.010 GeneticVariation BEFREE Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. 24251769 2014
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.010 GeneticVariation BEFREE Further studies were used to identify the most likely mechanism by which rs1122608 regulates atherosclerosis. 24190014 2014
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.010 GeneticVariation BEFREE Further studies were used to identify the most likely mechanism by which rs1122608 regulates atherosclerosis. 24190014 2014
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke and implicates splicing factor SFSR3 in the disease process. 24190014 2014