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rs17249754

From SNPedia

Orientationplus
Stabilizedplus
Make rs17249754(A;A)
Make rs17249754(A;G)
Make rs17249754(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position89666809
GeneATP2B1
is asnp
is mentioned by
dbSNPrs17249754
ebirs17249754
HLIrs17249754
Exacrs17249754
Varsomers17249754
Maprs17249754
PheGenIrs17249754
hapmaprs17249754
1000 genomesrs17249754
hgdprs17249754
ensemblrs17249754
gopubmedrs17249754
geneviewrs17249754
scholarrs17249754
googlers17249754
pharmgkbrs17249754
gwascentralrs17249754
openSNPrs17249754
23andMers17249754
23andMe allrs17249754
SNP Nexus

SNPshotrs17249754
SNPdbers17249754
MSV3drs17249754
GWAS Ctlgrs17249754
GMAF0.2011
Max Magnitude
? (A;A) (A;G) (G;G) 28
10.1038/ng.357 Korean systolic blood pressure rs17249754 (P = 1.3 times 10-7)
GWAS snp
PMID [PMID 19396169]
Trait Biomedical quantitative traits
Title A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
Risk Allele A
P-val 0.000003
Odds Ratio 0.63 [0.37-0.89] mm Hg decrease


[PMID 19960030] Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts

GWAS snp
PMID [PMID 21572416OA-icon.png]
Trait
Title Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
Risk Allele G
P-val 8E-20
Odds Ratio 1.1700 [0.92-1.42] mm Hg increase


[PMID 22229515] Polymorphism near the ATP2B1 gene is associated with hypertension risk in East Asians: A meta-analysis involving 15 909 cases and 18 529 controls

GWAS snp
PMID [PMID 21909110OA-icon.png]
Trait
Title Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Risk Allele G
P-val 6E-10
Odds Ratio 0.3920 [0.27-0.52] mmHg increase


GET Evidence
rs17249754
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.25
summary



[PMID 23079715] Common variants in the ATP2B1 gene are associated with hypertension and arterial stiffness in Chinese population.


[PMID 23102448] Physical activity modifies the associations between genetic variants and hypertension in the Chinese children.


[PMID 23591986] Influence of obesity on association between genetic variants identified by genome-wide association studies and hypertension risk in Chinese children.

GWAS snp
PMID [PMID 24001895OA-icon.png]
Trait Blood pressure
Title Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.
Risk Allele A
P-val 7E-15
Odds Ratio .80 [0.6-1] mm of mercury decrease


[PMID 27149052] Interaction according to urinary sodium excretion level on the association between ATP2B1 rs17249754 and incident hypertension: the Korean genome epidemiology study.