rs1047031

minus

Geno	Mag	Summary
(A;A)	1.3	1.3x increased risk for periodontitis
(A;G)	0.5	normal
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

8

Position

6870676

Gene

DEFB1

is a	snp
is	mentioned by
dbSNP	rs1047031
dbSNP (classic)	rs1047031
ClinGen	rs1047031
ebi	rs1047031
HLI	rs1047031
Exac	rs1047031
Gnomad	rs1047031
Varsome	rs1047031
LitVar	rs1047031
Map	rs1047031
PheGenI	rs1047031
Biobank	rs1047031
1000 genomes	rs1047031
hgdp	rs1047031
ensembl	rs1047031
geneview	rs1047031
scholar	rs1047031
google	rs1047031
pharmgkb	rs1047031
gwascentral	rs1047031
openSNP	rs1047031
23andMe	rs1047031
SNPshot	rs1047031
SNPdbe	rs1047031
MSV3d	rs1047031
GWAS Ctlg	rs1047031

GMAF

0.2084

Max Magnitude

1.3

?

(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 18396467 ] 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.

[PMID 33231892] Beta-defensin 1 gene polymorphisms in the pathologies of the oral cavity- data from meta-analysis: association only with rs1047031 not with rs1800972, rs1799946 and rs11362.