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rs2302009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 1.2 4.6x risk of eosinophilic esophagitis
(G;T) 1 normal
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position75769680
GeneCCL26
is asnp
is mentioned by
dbSNPrs2302009
ebirs2302009
HLIrs2302009
Exacrs2302009
Varsomers2302009
Maprs2302009
PheGenIrs2302009
hapmaprs2302009
1000 genomesrs2302009
hgdprs2302009
ensemblrs2302009
gopubmedrs2302009
geneviewrs2302009
scholarrs2302009
googlers2302009
pharmgkbrs2302009
gwascentralrs2302009
openSNPrs2302009
23andMers2302009
23andMe allrs2302009
SNP Nexus

SNPshotrs2302009
SNPdbers2302009
MSV3drs2302009
GWAS Ctlgrs2302009
GMAF0.264
Max Magnitude1.2
? (G;G) (G;T) (T;T) 28
rs2302009 is a SNP located in the 3' untranslated region of the CCL26 gene. This gene (and this SNP) were discovered to be strongly associated with 117 patients with eosinophilic esophagitis, a form of esophagitis (or inflammation of the esophagus) that shares many symptoms with gastroesophageal reflux disease (GERD). [PMID 16453027OA-icon.png]

rs2302009(G) is the risk allele. The rs2302009(G;G) homozygous genotype is the most predisposed to developing eosinophilic esophagitis (odds ratio 4.55, CI 1.71–12.39). The heterozgyote (rs2302009(G;T)) genotype's risk was indistinguishable statistically from the normal rs23020099(T;T) genotype. [PMID 15453027]

OMIM604697
DescESOPHAGITIS, EOSINOPHILIC, SUSCEPTIBILITY TO
Variant0001
Relatedalso
OMIM610247
DescESOPHAGITIS, EOSINOPHILIC
Variant
Relatedalso
[PMID 17848170OA-icon.png] The chemokine network. II. On how polymorphisms and alternative splicing increase the number of molecular species and configure intricate patterns of disease susceptibility.


[PMID 20808897OA-icon.png] Disease-associated mutations that alter the RNA structural ensemble.