Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13041247
rs13041247
0.810 GeneticVariation GWASDB SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469

2010

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: rs572007403
rs572007403
0.010 GeneticVariation BEFREE One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin. 26199944

2015

dbSNP: rs13041247
rs13041247
0.810 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
0.710 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: 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: rs3821949
rs3821949
0.010 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: 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: rs2235371
rs2235371
0.740 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: rs7017252
rs7017252
0.800 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs987525
rs987525
A 0.800 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs987525
rs987525
A 0.800 GeneticVariation GWASCAT Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs10956453
rs10956453
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs11506137
rs11506137
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs1155582
rs1155582
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs11994831
rs11994831
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs12546244
rs12546244
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs12546523
rs12546523
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs12547241
rs12547241
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs13265167
rs13265167
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs13274247
rs13274247
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs1372449
rs1372449
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs1372995
rs1372995
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs1432017
rs1432017
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs1441994
rs1441994
0.700 GeneticVariation GWASDB Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009