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rs1010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal form
(A;G) 1.75x risk of MI
(G;G) 1.75x risk of MI
ReferenceGRCh38 38.1/141
Chromosome2
Position85581859
GeneVAMP8
is asnp
is mentioned by
dbSNPrs1010
ebirs1010
HLIrs1010
Exacrs1010
Varsomers1010
Maprs1010
PheGenIrs1010
hapmaprs1010
1000 genomesrs1010
hgdprs1010
ensemblrs1010
gopubmedrs1010
geneviewrs1010
scholarrs1010
googlers1010
pharmgkbrs1010
gwascentralrs1010
openSNPrs1010
23andMers1010
23andMe allrs1010
SNP Nexus

SNPshotrs1010
SNPdbers1010
MSV3drs1010
GWAS Ctlgrs1010
GMAF0.4467
Max Magnitude
? (A;A) (A;G) (G;G) 28
This SNP, located on chromosome 2 in a gene (VAMP8) associated with platelet activation, may be associated with early onset myocardial infarction (MI). The risk allele for this SNP (in dbSNP orientation) is rs1010(G), with an odds ratio of 1.75 (CI: 1.17–2.62). [PMID 16690874]

Furthermore, this SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD).

For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 possible risk variants (two copies of each of the five SNPs) were assigned a GRS of 5 and those carrying no risk variants a GRS of -5. A high GRS was defined as 3 or higher. Approximately 4% of the white cohort in ARIC was classified as high risk, and the hazard ratio for CHD after adjustment for traditional risk factors was a significant 1.57 (CI: 1.21-2.04; p<0.001). The results did not reproduce for African American participants.[PMID 18073581]



[PMID 19752551OA-icon.png] Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry


[PMID 22192511] KIF6, LPA, TAS2R50, and VAMP8 genetic variation, low density lipoprotein cholesterol lowering response to pravastatin, and heart disease risk reduction in the elderly


[PMID 17767904OA-icon.png] Genetic and genomic insights into the molecular basis of atherosclerosis.


[PMID 18599554OA-icon.png] Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.


[PMID 19374688OA-icon.png] No influence of the VAMP8 rs1010 single nucleotide polymorphism on platelet functions in vitro.


[PMID 19943878OA-icon.png] VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA.


[PMID 22676277] Vascular associated gene variants in patients with preeclampsia: results from the Danish National Birth Cohort


GET Evidence
rs1010
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.398438
summary