DEFB1, defensin beta 1, 1672

N. diseases: 177; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11362
rs11362
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.030 GeneticVariation BEFREE In the Ribeirão Preto group, the allelic and genotypic distributions in the polymorphism rs11362 in DEFB1 were associated with caries experience. 29727722 2018
dbSNP: rs11362
rs11362
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.030 GeneticVariation BEFREE We analysed 5 DEFB1 polymorphisms, namely 3 functional single-nucleotide polymorphisms (SNPs) at the 5'-untranslated region (UTR), -52G>A (rs1799946), -44C>G (rs1800972), and -20G>A (rs11362), 2 SNPs at the 3'-UTR, c*5G>A (rs1047031) and c*87A>G (rs1800971) SNP located in potential miRNA binding sites, looking for possible correlations with the risk to develop caries in 654 adult subjects from isolated populations of north-eastern Italy. 27846636 2016
dbSNP: rs11362
rs11362
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.030 GeneticVariation BEFREE The genetic variant rs11362 in DEFB 1 influences caries susceptibility in CL/P children. 23964634 2014
dbSNP: rs1800972
rs1800972
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.020 GeneticVariation BEFREE We analysed 5 DEFB1 polymorphisms, namely 3 functional single-nucleotide polymorphisms (SNPs) at the 5'-untranslated region (UTR), -52G>A (rs1799946), -44C>G (rs1800972), and -20G>A (rs11362), 2 SNPs at the 3'-UTR, c*5G>A (rs1047031) and c*87A>G (rs1800971) SNP located in potential miRNA binding sites, looking for possible correlations with the risk to develop caries in 654 adult subjects from isolated populations of north-eastern Italy. 27846636 2016
dbSNP: rs1800972
rs1800972
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.020 GeneticVariation BEFREE Two single nucleotide polymorphisms in DEFB 1 were selected (rs11362 and rs1800972) based on being associated with higher caries experience in previous work. 23964634 2014
dbSNP: rs1047031
rs1047031
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.010 GeneticVariation BEFREE We analysed 5 DEFB1 polymorphisms, namely 3 functional single-nucleotide polymorphisms (SNPs) at the 5'-untranslated region (UTR), -52G>A (rs1799946), -44C>G (rs1800972), and -20G>A (rs11362), 2 SNPs at the 3'-UTR, c*5G>A (rs1047031) and c*87A>G (rs1800971) SNP located in potential miRNA binding sites, looking for possible correlations with the risk to develop caries in 654 adult subjects from isolated populations of north-eastern Italy. 27846636 2016
dbSNP: rs1799946
rs1799946
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.010 GeneticVariation BEFREE We analysed 5 DEFB1 polymorphisms, namely 3 functional single-nucleotide polymorphisms (SNPs) at the 5'-untranslated region (UTR), -52G>A (rs1799946), -44C>G (rs1800972), and -20G>A (rs11362), 2 SNPs at the 3'-UTR, c*5G>A (rs1047031) and c*87A>G (rs1800971) SNP located in potential miRNA binding sites, looking for possible correlations with the risk to develop caries in 654 adult subjects from isolated populations of north-eastern Italy. 27846636 2016
dbSNP: rs1800971
rs1800971
Entrez Id: 1672
Gene Symbol: DEFB1
DEFB1
CUI: C0011334
Disease:
Dental caries
0.010 GeneticVariation BEFREE We analysed 5 DEFB1 polymorphisms, namely 3 functional single-nucleotide polymorphisms (SNPs) at the 5'-untranslated region (UTR), -52G>A (rs1799946), -44C>G (rs1800972), and -20G>A (rs11362), 2 SNPs at the 3'-UTR, c*5G>A (rs1047031) and c*87A>G (rs1800971) SNP located in potential miRNA binding sites, looking for possible correlations with the risk to develop caries in 654 adult subjects from isolated populations of north-eastern Italy. 27846636 2016