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rs383830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 1.9x risk
(A;T) 1.6x risk
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome5
Position100613278
is asnp
is mentioned by
dbSNPrs383830
dbSNP (classic)rs383830
ClinGenrs383830
ebirs383830
HLIrs383830
Exacrs383830
Gnomadrs383830
Varsomers383830
LitVarrs383830
Maprs383830
PheGenIrs383830
Biobankrs383830
1000 genomesrs383830
hgdprs383830
ensemblrs383830
geneviewrs383830
scholarrs383830
googlers383830
pharmgkbrs383830
gwascentralrs383830
openSNPrs383830
23andMers383830
SNPshotrs383830
SNPdbers383830
MSV3drs383830
GWAS Ctlgrs383830
GMAF0.208
Max Magnitude2
? (A;A) (A;T) (T;T) 28


rs383830 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease.

The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.60 (CI 1.16-2.21), and for homozygotes, 1.92 (CI 1.40-2.63). [PMID 17554300OA-icon.png]


[PMID 19956433OA-icon.png] Genetics of coronary artery disease: focus on genome-wide association studies.


[PMID 21804106OA-icon.png] Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.


[PMID 26436499] Male-specific association of the APC rs383830 T allele with the risk of coronary heart disease