rs2228671
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial Hypercholesterolemia |
| (C;C) | 0 | common in complete genomics |
| (C;G) | 5 | Familial Hypercholesterolemia |
| (C;T) | 1 | Likely to be benign according to ClinVar |
| Make rs2228671(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11100236 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228671 |
| dbSNP (classic) | rs2228671 |
| ClinGen | rs2228671 |
| ebi | rs2228671 |
| HLI | rs2228671 |
| Exac | rs2228671 |
| Gnomad | rs2228671 |
| Varsome | rs2228671 |
| LitVar | rs2228671 |
| Map | rs2228671 |
| PheGenI | rs2228671 |
| Biobank | rs2228671 |
| 1000 genomes | rs2228671 |
| hgdp | rs2228671 |
| ensembl | rs2228671 |
| geneview | rs2228671 |
| scholar | rs2228671 |
| rs2228671 | |
| pharmgkb | rs2228671 |
| gwascentral | rs2228671 |
| openSNP | rs2228671 |
| 23andMe | rs2228671 |
| SNPshot | rs2228671 |
| SNPdbe | rs2228671 |
| MSV3d | rs2228671 |
| GWAS Ctlg | rs2228671 |
| GMAF | 0.05739 |
| Max Magnitude | 5 |
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 18714375] 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 19060911]
|
| 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 |
[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 18262040] LDL-cholesterol concentrations: a genome-wide association study.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19087220] Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.
[PMID 19802338] 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 19913121] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20502693] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
[PMID 20616999] Usefulness of Mendelian randomization in observational epidemiology.
| ClinVar | |
|---|---|
| Risk | rs2228671(A;A) rs2228671(G;G) rs2228671(T;T) |
| Alt | rs2228671(A;A) rs2228671(G;G) rs2228671(T;T) |
| Reference | Rs2228671(C;C) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not specified |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not specified |
| 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, RCV000211569.4, RCV000238104.3, RCV000248705.2, |
