rs688
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal risk |
| (C;T) | 0 | normal risk for Alzheimer's; higher total and LDL cholesterol in females |
| (T;T) | 1.5x higher risk for males of Alzheimer's; higher total and LDL cholesterol in females |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11116926 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs688 |
| dbSNP (classic) | rs688 |
| ClinGen | rs688 |
| ebi | rs688 |
| HLI | rs688 |
| Exac | rs688 |
| Gnomad | rs688 |
| Varsome | rs688 |
| LitVar | rs688 |
| Map | rs688 |
| PheGenI | rs688 |
| Biobank | rs688 |
| 1000 genomes | rs688 |
| hgdp | rs688 |
| ensembl | rs688 |
| geneview | rs688 |
| scholar | rs688 |
| rs688 | |
| pharmgkb | rs688 |
| gwascentral | rs688 |
| openSNP | rs688 |
| 23andMe | rs688 |
| SNPshot | rs688 |
| SNPdbe | rs688 |
| MSV3d | rs688 |
| GWAS Ctlg | rs688 |
| GMAF | 0.2796 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
RNA made containing the rs688(T) SNP, a variant near exon 12 of the low-density lipoprotein receptor (LDLR) that is a receptor for ApoE proteins, is spliced at lower efficiency in males. Presumably due to this, the rs688(T;T) genotype was associated with increased risk for Alzheimer's disease odds in males (odds ratio 1.49, CI: 1.13-1.97, uncorrected p=0.005), but not in females.[PMID 18065781
]
The presence of the rs688(T) allele associates with increased total and LDL-cholesterol in female members of the Framingham Offspring Study; rs688 was not associated with significant differences in HDL-cholesterol. The largest rs688-associated cholesterol differences were observed in pre-menopausal women. Taken together, rs688, a SNP present in approximately 60% of Caucasians, is associated with significant 10% increases in total and LDL-cholesterol in pre-menopausal women.[PMID 17517690]
[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 12434007] SNP genotyping on a genome-wide amplified DOP-PCR template.
[PMID 18159244] Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
[PMID 18179892] Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
[PMID 18714375] Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19888660] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20005478] The role of HMGCR alternative splicing in statin efficacy.
[PMID 20158892] Genomic features defining exonic variants that modulate splicing.
[PMID 20232416] Role of SFRS13A in low-density lipoprotein receptor splicing.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20807319] Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
[PMID 20972250] Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
[PMID 23588940] Association of Polymorphisms Modulating Low-density Lipoprotein Cholesterol with Susceptibility, Severity, and Progression of Rheumatoid Arthritis
[PMID 24295502] Genetic Polymorphism of LDLR (rs688) Is Associated with Primary Intracerebral Hemorrhage
[PMID 22621231] Polymorphisms at the LDLR locus may be associated with ischemic cerebrovascular disease independent of lipid profile.
[PMID 23297366] A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.
[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity
| ClinVar | |
|---|---|
| Risk | Rs688(T;T) |
| Alt | Rs688(T;T) |
| Reference | Rs688(C;C) |
| Significance | Other |
| Disease | not specified Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | not specified Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11227602C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000182338.4, RCV000237654.3, |
[PMID 29843469] LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.
[PMID 30260075] SNP rs688 Within the Low-Density Lipoprotein Receptor (LDL-R) Gene Associates with HCV Susceptibility.
