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rs688

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome19
Position11116926
GeneLDLR
is asnp
is mentioned by
dbSNPrs688
ebirs688
HLIrs688
Exacrs688
Varsomers688
Maprs688
PheGenIrs688
hapmaprs688
1000 genomesrs688
hgdprs688
ensemblrs688
gopubmedrs688
geneviewrs688
scholarrs688
googlers688
pharmgkbrs688
gwascentralrs688
openSNPrs688
23andMers688
23andMe allrs688
SNP Nexus

SNPshotrs688
SNPdbers688
MSV3drs688
GWAS Ctlgrs688
GMAF0.2796
Max Magnitude0
? (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 18065781OA-icon.png]

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 17517690OA-icon.png]

Neighborrs28942082
Distance725



[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 12434007OA-icon.png] SNP genotyping on a genome-wide amplified DOP-PCR template.

[PMID 18159244OA-icon.png] Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

[PMID 18179892OA-icon.png] Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

[PMID 18714375OA-icon.png] 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 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19888660OA-icon.png] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.

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

[PMID 20005478OA-icon.png] The role of HMGCR alternative splicing in statin efficacy.

[PMID 20158892OA-icon.png] Genomic features defining exonic variants that modulate splicing.

[PMID 20232416OA-icon.png] Role of SFRS13A in low-density lipoprotein receptor splicing.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20807319OA-icon.png] 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.


GET Evidence
rs688
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.335657
summary



[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 23297366OA-icon.png] 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 Non-pathogenic
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 RCV000182338.2, RCV000237654.1,