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rs1367117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1367117(A;A)
Make rs1367117(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position21041028
GeneAPOB
is asnp
is mentioned by
dbSNPrs1367117
ebirs1367117
HLIrs1367117
Exacrs1367117
Varsomers1367117
Maprs1367117
PheGenIrs1367117
hapmaprs1367117
1000 genomesrs1367117
hgdprs1367117
ensemblrs1367117
gopubmedrs1367117
geneviewrs1367117
scholarrs1367117
googlers1367117
pharmgkbrs1367117
gwascentralrs1367117
openSNPrs1367117
23andMers1367117
23andMe allrs1367117
SNP Nexus

SNPshotrs1367117
SNPdbers1367117
MSV3drs1367117
GWAS Ctlgrs1367117
GMAF0.2052
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs1367117 (C711T/711C>T) is a SNP within APOB (Apolipoprotein B).

[PMID 15453913OA-icon.png] among 97 hypertensive subjects, C allele carriers responded to irbesartan with an average blood pressure reduction of 19 mmHg, however, they did not respond to atenolol

[PMID 19888660OA-icon.png] associated with apoB levels


OMIM107730
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 20686565OA-icon.png]
Trait
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele A
P-val 0
Odds Ratio 4.1600 None


[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.


[PMID 18078817OA-icon.png] Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics.


[PMID 18296645OA-icon.png] Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.


[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.


GET Evidence
APOB-T98I
aa_change Thr98Ile
aa_change_short T98I
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.246607
summary Irbestartan more effective than atenolol in lowering blood pressure.



[PMID 23298194OA-icon.png] Epistatic study reveals two genetic interactions in blood pressure regulation

GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait Cholesterol, total
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele A
P-val 3E-139
Odds Ratio .10 [NR] unit increase


ClinVar
Risk rs1367117(A;A)
Alt rs1367117(A;A)
Reference rs1367117(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene APOB
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.21263900G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000116386.2,



GWAS snp
PMID [PMID 19936222OA-icon.png]
Trait Lipid metabolism phenotypes
Title Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Risk Allele
P-val 2E-17
Odds Ratio 3.92 [NR] unit increase


[PMID 26451733OA-icon.png] Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults