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rs1122608

From SNPedia

Orientationplus
Stabilizedplus
Make rs1122608(G;G)
Make rs1122608(G;T)
Make rs1122608(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11052925
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs1122608
ebirs1122608
HLIrs1122608
Exacrs1122608
Varsomers1122608
Maprs1122608
PheGenIrs1122608
hapmaprs1122608
1000 genomesrs1122608
hgdprs1122608
ensemblrs1122608
gopubmedrs1122608
geneviewrs1122608
scholarrs1122608
googlers1122608
pharmgkbrs1122608
gwascentralrs1122608
openSNPrs1122608
23andMers1122608
23andMe allrs1122608
SNP Nexus

SNPshotrs1122608
SNPdbers1122608
MSV3drs1122608
GWAS Ctlgrs1122608
GMAF0.1391
Max Magnitude
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 24262325OA-icon.png]
Trait Coronary artery disease
Title Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Risk Allele T
P-val 3E-11
Odds Ratio 1.14 [1.09-1.18]
GWAS snp
PMID [PMID 21378990OA-icon.png]
Trait Coronary heart disease
Title Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Risk Allele G
P-val 1E-9
Odds Ratio 1.1400 [1.09-1.18]
GWAS snp
PMID [PMID 19198609OA-icon.png]
Trait Myocardial infarction (early onset)
Title Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Risk Allele G
P-val 2E-9
Odds Ratio 1.15 [1.10-1.20]



Coronary Heart Disease


[PMID 24219970OA-icon.png] Common genetic variants do not associate with CAD in familial hypercholesterolemia

[PMID 24190014OA-icon.png] BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3

[PMID 23380588] Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis.

[PMID 23202125OA-icon.png] Large-scale association analysis identifies new risk loci for coronary artery disease.

[PMID 22199011OA-icon.png] Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies

[PMID 20835900OA-icon.png] Genetics of diabetes complications.

[PMID 20810930] Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile

[PMID 19956433OA-icon.png] Genetics of coronary artery disease: focus on genome-wide association studies.


GET Evidence
rs1122608
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.15625
summary



[PMID 24251769] LDL-c-linked SNPs are associated with LDL-c and myocardial infarction despite lipid-lowering therapy in patients with established vascular disease


[PMID 24902015] Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile