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rs693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) elevated lipids
(T;T) elevated lipids
ReferenceGRCh38 38.1/141
Chromosome2
Position21009323
GeneAPOB
is asnp
is mentioned by
dbSNPrs693
ebirs693
HLIrs693
Exacrs693
Varsomers693
Maprs693
PheGenIrs693
hapmaprs693
1000 genomesrs693
hgdprs693
ensemblrs693
gopubmedrs693
geneviewrs693
scholarrs693
googlers693
pharmgkbrs693
gwascentralrs693
openSNPrs693
23andMers693
23andMe allrs693
SNP Nexus

SNPshotrs693
SNPdbers693
MSV3drs693
GWAS Ctlgrs693
GMAF0.2741
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Rs693
PubMed [PMID 17463246]
Affy Probeset SNP_A-4291370
Affy Orientation same
On GW 5.0 1
Alleles A/B C/T
Ancestral C
Population NEU
Allele T
Case Freq.
Control Freq. 0.45
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All -
Disease Elevated Apolipoprotein B (E-APOB)


rs693 increases susceptibility to Elevated Apolipoprotein B and LDL-Cholesterol for carriers of the T allele [PMID 17463246]

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-23
Odds Ratio 0.10 [NR] SD decrease
GWAS snp
PMID [PMID 19060910OA-icon.png]
Trait LDL cholesterol
Title Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Risk Allele A
P-val 3E-11
Odds Ratio 0.12 [0.09-0.16] mmol/l increase
GWAS snp
PMID [PMID 18193044OA-icon.png]
Trait LDL cholesterol
Title Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Risk Allele A
P-val 9.9999999999999991E-22
Odds Ratio 0.12 [0.10-0.14] % SD higher
OMIM107730
DescAPOLIPOPROTEIN B; APOB
Variant
Relatedalso
[PMID 20082485OA-icon.png] Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women


[PMID 19773416OA-icon.png] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women

[PMID 20724655OA-icon.png] ApoB genetic variants modify the response to fenofibrate: a GOLDN study




[PMID 20570668] Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau


[PMID 18196181OA-icon.png] Correction of population stratification in large multi-ethnic association studies.


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


[PMID 19148283OA-icon.png] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.


[PMID 19161620OA-icon.png] An open access database of genome-wide association results.


[PMID 19185284OA-icon.png] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.


[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.


[PMID 19435741OA-icon.png] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.


[PMID 19656773OA-icon.png] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.


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


[PMID 20018036OA-icon.png] Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.


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


[PMID 20972250] Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.


[PMID 22688886OA-icon.png] Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study.


GET Evidence
rs693
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.408626
summary



[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy


[PMID 23247049] Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response


[PMID 23588940] Association of Polymorphisms Modulating Low-density Lipoprotein Cholesterol with Susceptibility, Severity, and Progression of Rheumatoid Arthritis


[PMID 23861364OA-icon.png] Do Genetic Modifiers of HDL-C and Triglyceride Levels also Modify Their Response to a Lifestyle Intervention in the Setting of Obesity and Type-2 Diabetes Mellitus? The Look AHEAD Study


[PMID 22715478] Genotypes associated with lipid metabolism contribute to differences in serum lipid profile of GH-deficient adults before and after GH replacement therapy.


[PMID 22922093] Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses.


[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.


[PMID 23444115] Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast cancer in Chinese.


ClinVar
Risk Rs693(T;T)
Alt Rs693(T;T)
Reference Rs693(C;C)
Significance Other
Disease not specified
Variation info
Gene APOB
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.21232195G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000116389.3,