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rs5800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) AF risk in HCM patients (only)
(A;G) AF risk in HCM patients (only)
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome1
Position41479019
GeneEDN2
is asnp
is mentioned by
dbSNPrs5800
ebirs5800
HLIrs5800
Exacrs5800
Varsomers5800
Maprs5800
PheGenIrs5800
hapmaprs5800
1000 genomesrs5800
hgdprs5800
ensemblrs5800
gopubmedrs5800
geneviewrs5800
scholarrs5800
googlers5800
pharmgkbrs5800
gwascentralrs5800
openSNPrs5800
23andMers5800
23andMe allrs5800
SNP Nexus

SNPshotrs5800
SNPdbers5800
MSV3drs5800
GWAS Ctlgrs5800
GMAF0.1469
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs5800, also known as A985G, is a SNP in the endothelin-2 EDN2 gene.

In a study of 110 Japanese patients being treated for hypertrophic cardiomyopathy (HCM), the rs5800(A) allele frequency was more than double in those who developed atrial fibrillation (AF) than among those who did not. This was statistically significant (p=0.014 by chi-square analysis, p=0.018 in an adjusted multivariate model).[PMID 18037749]

Note that the rs5800(A) allele is not associated with increased risk for cardiomyopathy; in fact, it may even be somewhat protective. It is associated with atrial fibrillation only in patients with hypertrophic cardiotrophy.[PMID 18037749]