rs693

minus

Geno	Mag	Summary
(C;C)	0	normal
(C;T)		elevated lipids
(T;T)		elevated lipids

Reference

GRCh38 38.1/141

Chromosome

2

Position

21009323

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs693
dbSNP (classic)	rs693
ClinGen	rs693
ebi	rs693
HLI	rs693
Exac	rs693
Gnomad	rs693
Varsome	rs693
LitVar	rs693
Map	rs693
PheGenI	rs693
Biobank	rs693
1000 genomes	rs693
hgdp	rs693
ensembl	rs693
geneview	rs693
scholar	rs693
google	rs693
pharmgkb	rs693
gwascentral	rs693
openSNP	rs693
23andMe	rs693
SNPshot	rs693
SNPdbe	rs693
MSV3d	rs693
GWAS Ctlg	rs693

GMAF

0.2741

Max Magnitude

0

?

(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 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-23
Odds Ratio	0.10 [NR] SD decrease

GWAS snp
PMID	[PMID 19060910 ]
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 18193044 ]
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

OMIM	107730
Desc	APOLIPOPROTEIN B; APOB
Variant
Related	also

[PMID 20082485 ] Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women

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

[PMID 20724655 ] 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 18196181 ] Correction of population stratification in large multi-ethnic association studies.

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

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

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

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

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

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

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

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

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

[PMID 20502693 ] 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 22688886 ] 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.

[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 23861364 ] 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 Familial hypobetalipoproteinemia Familial hypercholesterolemia
Variation	info
Gene	APOB
CLNDBN	not specified Familial hypobetalipoproteinemia Familial hypercholesterolemia
Reversed	1
HGVS	NC_000002.11:g.21232195G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000116389.4, RCV000274903.1, RCV000388049.1,

[PMID 30996113 ] Association between genetic polymorphisms and osteonecrosis in steroid treatment populations: a detailed stratified and dose-response meta-analysis.

[PMID 32647408 ] Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.