rs5800

minus

Geno	Mag	Summary
(A;A)		AF risk in HCM patients (only)
(A;G)		AF risk in HCM patients (only)
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

1

Position

41479019

Gene

EDN2

is a	snp
is	mentioned by
dbSNP	rs5800
dbSNP (classic)	rs5800
ClinGen	rs5800
ebi	rs5800
HLI	rs5800
Exac	rs5800
Gnomad	rs5800
Varsome	rs5800
LitVar	rs5800
Map	rs5800
PheGenI	rs5800
Biobank	rs5800
1000 genomes	rs5800
hgdp	rs5800
ensembl	rs5800
geneview	rs5800
scholar	rs5800
google	rs5800
pharmgkb	rs5800
gwascentral	rs5800
openSNP	rs5800
23andMe	rs5800
SNPshot	rs5800
SNPdbe	rs5800
MSV3d	rs5800
GWAS Ctlg	rs5800

GMAF

0.1469

Max Magnitude

0

?

(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]