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rs2228671

From SNPedia

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Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs2228671(C;T)
Make rs2228671(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11100236
GeneLDLR
is asnp
is mentioned by
dbSNPrs2228671
ebirs2228671
HLIrs2228671
Exacrs2228671
Varsomers2228671
Maprs2228671
PheGenIrs2228671
hapmaprs2228671
1000 genomesrs2228671
hgdprs2228671
ensemblrs2228671
gopubmedrs2228671
geneviewrs2228671
scholarrs2228671
googlers2228671
pharmgkbrs2228671
gwascentralrs2228671
openSNPrs2228671
23andMers2228671
23andMe allrs2228671
SNP Nexus

SNPshotrs2228671
SNPdbers2228671
MSV3drs2228671
GWAS Ctlgrs2228671
GMAF0.05739
Max Magnitude4

The G variant of this SNP in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]

? (C;C) (C;T) (T;T) 28
[PMID 18714375OA-icon.png] 15,000 individuals. Each copy of the minor T allele of SNP rs2228671 was related to a decrease of LDL-C levels by 0.19 mmol/L (95% confidence interval (CI) [0.13-0.24] mmol/L, p = 1.5x10(-10)) and a significantly lower risk of coronary artery disease (OR per copy of the T allele: 0.82, 95% CI [0.76-0.89], p = 2.1x10(-7))
GWAS snp
PMID [PMID 19060911OA-icon.png]
Trait Cholesterol, total
Title Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Risk Allele G
P-val 9E-24
Odds Ratio 0.16 [NR] SD increase


OMIM606945
DescLOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Variant
Relatedalso



[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 18262040OA-icon.png] LDL-cholesterol concentrations: a genome-wide association study.


[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 19087220OA-icon.png] Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.


[PMID 19802338OA-icon.png] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.


[PMID 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.


[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.


[PMID 20502693OA-icon.png] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.


[PMID 20616999OA-icon.png] Usefulness of Mendelian randomization in observational epidemiology.


GET Evidence
rs2228671
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0898866
summary rs2228671 is a C/T variation in the LDLR gene on human chromosome 19 associated with total cholesterol.



ClinVar
Risk rs2228671(G,T;G,T)
Alt rs2228671(G,T;G,T)
Reference rs2228671(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210912C>A; NC_000019.9:g.11210912C>G; NC_000019.9:g.11210912C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237744.1, RCV000211569.2, RCV000238104.1,