Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE This integrated analysis supports the previous finding of differences in DNA methylation across the two sides of cleft lip and further suggests a possible role of MTHFR c.677C>T genotype in establishing this difference. 31161688

2019

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE We revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and/or palate in the Turkish population. 23725631

2013

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE The pooled results revealed no statistical association between infant and maternal C677T and A1298C variants and risk of cleft lip with or without palate (CL/P) or cleft palate only (CPO), except for the maternal 677TT genotype for CL/P, the OR was 1.32 (95% confidence interval [CI], 1.06-1.63) as compared to the normal 677CC genotype. 22450905

2012

dbSNP: rs2235371
rs2235371
0.040 GeneticVariation BEFREE Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. 19780991

2010

dbSNP: rs2235371
rs2235371
0.040 GeneticVariation BEFREE In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes. 20799332

2010

dbSNP: rs2235371
rs2235371
0.040 GeneticVariation BEFREE Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. 19115793

2009

dbSNP: rs2235371
rs2235371
0.040 GeneticVariation BEFREE We carried out transmission-disequilibrium testing for V274I in 8003 individual subjects in 1968 families derived from 10 populations with ancestry in Asia, Europe, and South America, haplotype and linkage analyses, and case-control analyses, and determined the risk of cleft lip or palate that is associated with genetic variation in IRF6. 15317890

2004

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. 9843036

1998

dbSNP: rs642961
rs642961
0.030 GeneticVariation BEFREE We observed association between rs642961 and cleft lip only (CLO) (P=0.009; odds ratio (OR) for AA genotype=1.83 [95% Confidence interval (CI), 0.64-5.31]; OR for AG genotype=1.72 [95% CI, 1.03-2.84]). 22887868

2012

dbSNP: rs642961
rs642961
0.030 GeneticVariation BEFREE Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. 19780991

2010

dbSNP: rs642961
rs642961
0.030 GeneticVariation BEFREE In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes. 20799332

2010

dbSNP: rs2235375
rs2235375
0.020 GeneticVariation BEFREE These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. 28712851

2018

dbSNP: rs2235375
rs2235375
0.020 GeneticVariation BEFREE In the present study no association between the single nucleotide polymorphisms rs7552506, rs2013162, and rs2235375 and the cleft lip and/or palate phenotype was found. 25489771

2015

dbSNP: rs12532
rs12532
0.020 GeneticVariation BEFREE Although MSX1 rs3775261 polymorphism was not a risk factor for the disease, the rs12532 AG and rs12532 GG genotypes were associated with NS-CL/P risk (OR = 2.82, 95% CI = 1.55-5.15, P = .001; and OR = 8.42, 95% CI = 2.26-31.29, P = .004, respectively). 23231047

2013

dbSNP: rs16260
rs16260
0.020 GeneticVariation BEFREE Results : There was a significant difference between NS-CL/P subjects and control subjects regarding CDH1 rs16260 C > A polymorphism, and the rs16260 AC as well as the rs16260 AA genotypes were associated with NS-CL/P susceptibility (odds ratio [OR] = 3.02, 95% confidence interval [CI] =1.51-6.00, P = .001; and OR = 8.05, 95% CI = 1.72-37.75, P = .002, respectively). 23231047

2013

dbSNP: rs12532
rs12532
0.020 GeneticVariation BEFREE No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis. 21689018

2011

dbSNP: rs16260
rs16260
0.020 GeneticVariation BEFREE When all cleft cases were subsequently stratified into four groups (i.e. cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (CPO) groups were significantly different with those in the controls (P=0.004) and rs16260 AA genotype significantly increased the risk of CPO by 5.90-fold (OR=6.90, 95% CI=1.47-32.40), providing the first evidence of CDH1 genetic variation in the etiology of CPO. 20880515

2011

dbSNP: rs4791331
rs4791331
0.010 GeneticVariation BEFREE In the case-control study, the rs4791331-T allele was associated with an increased risk of nonsyndromic orofacial cleft (OR = 1.41, 95% CI = 1.19-1.68), as well as the subgroups cleft lip only (OR = 1.46, 95% CI = 1.14-1.87) and cleft lip and palate (OR = 1.58, 95% CI = 1.27-1.96). 31780810

2020

dbSNP: rs13041247
rs13041247
0.010 GeneticVariation BEFREE Non-syndromic cleft lip with or without palate-susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth. 31233659

2019

dbSNP: rs4791774
rs4791774
0.010 GeneticVariation BEFREE Non-syndromic cleft lip with or without palate-susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth. 31233659

2019

dbSNP: rs10130587
rs10130587
0.010 GeneticVariation BEFREE This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China. 29860186

2018

dbSNP: rs10719
rs10719
0.010 GeneticVariation BEFREE Two SNPs were associated with the susceptibility of CL/P: rs10719 in DROSHA led to an increased risk of cleft lip with or without palate (CL/P) (GA/AA: p = .024, OR = 1.33, 95% CI = [1.04, 1.70]; GG + GA/AA: p = .037, OR = 1.29, 95% CI = [1.02, 1.63]), while rs493760 in DROSHA (CC/TT: p = .049, OR = 0.58, 95% CI = [0.34, 0.99]) could reduce the risk of CL/P. 28833944

2018

dbSNP: rs12543318
rs12543318
0.010 GeneticVariation BEFREE Homozygote C/C at rs12543318 was risk factor for non-syndromic cleft lip only from Western Han Chinese population. 29683526

2018

dbSNP: rs17563
rs17563
0.010 GeneticVariation BEFREE This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China. 29860186

2018

dbSNP: rs201002930
rs201002930
0.010 GeneticVariation BEFREE Stratified analysis showed that WNT10a rs201002930 (c.392 C>T) significantly decreased the risk of cleft lip with cleft palate and cleft palate only. 29356097

2018