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rs1047031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.3 1.3x increased risk for periodontitis
(A;G) 0.5 normal
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome8
Position6870676
GeneDEFB1
is asnp
is mentioned by
dbSNPrs1047031
ebirs1047031
HLIrs1047031
Exacrs1047031
Varsomers1047031
Maprs1047031
PheGenIrs1047031
hapmaprs1047031
1000 genomesrs1047031
hgdprs1047031
ensemblrs1047031
gopubmedrs1047031
geneviewrs1047031
scholarrs1047031
googlers1047031
pharmgkbrs1047031
gwascentralrs1047031
openSNPrs1047031
23andMers1047031
23andMe allrs1047031
SNP Nexus

SNPshotrs1047031
SNPdbers1047031
MSV3drs1047031
GWAS Ctlgrs1047031
GMAF0.2084
Max Magnitude1.3
? (A;A) (A;G) (G;G) 28
rs1047031 is a SNP in the 3' untranslated region of the beta 1 defensin DEFB1 gene.

Using 1,337 cases and 2,887 ethnically matched controls,a study has found that rs1047031(A;A) homozygotes have an increased risk for periodontitis, with an odds ratio of 1.3 (CI: 1.11-1.57, p=0.002). The association was increased specifically for chronic periodontitis (odds ratio 2.2, CI:1.16-4.35, p=0.02), and aggressive periodontitis (odds ratio 1.3, CI:1.04-1.68, p=0.02).[PMID 19829306]


[PMID 18396467OA-icon.png] Genetic variation and haplotype structures of innate immunity genes in eastern India.


[PMID 25020984] 8.4 Serum beta defensin concentration in the first trimester is related to genotype, and is higher in women who develop PPROM and deliver before 34 weeks


[PMID 27846636] Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy.