Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909574
rs121909574
C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015

dbSNP: rs1364709483
rs1364709483
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
T 0.700 CausalMutation CLINVAR

dbSNP: rs793888541
rs793888541
T 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015

dbSNP: rs12543318
rs12543318
0.810 GeneticVariation GWASDB A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469

2010

dbSNP: rs12543318
rs12543318
0.810 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017

dbSNP: rs12543318
rs12543318
C 0.810 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734

2012

dbSNP: rs12543318
rs12543318
C 0.810 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017

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

2018

dbSNP: rs13041247
rs13041247
T 0.810 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734

2012

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: 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: rs13041247
rs13041247
T 0.810 GeneticVariation GWASCAT Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. 25775280

2015

dbSNP: rs10863790
rs10863790
0.800 GeneticVariation GWASCAT A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469

2010

dbSNP: rs10863790
rs10863790
0.800 GeneticVariation GWASDB A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469

2010

dbSNP: rs11841646
rs11841646
0.800 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734

2012

dbSNP: rs11841646
rs11841646
0.800 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017

dbSNP: rs1258763
rs1258763
A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. 20023658

2010

dbSNP: rs1258763
rs1258763
A 0.800 GeneticVariation GWASDB Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. 20023658

2010

dbSNP: rs1536895
rs1536895
C 0.800 GeneticVariation GWASCAT Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. 21618603

2011

dbSNP: rs1536895
rs1536895
C 0.800 GeneticVariation GWASDB Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. 21618603

2011

dbSNP: rs17085106
rs17085106
0.800 GeneticVariation GWASCAT A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. 19656524

2009

dbSNP: rs17085106
rs17085106
0.800 GeneticVariation GWASDB A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. 19656524

2009

dbSNP: rs1873147
rs1873147
0.800 GeneticVariation GWASDB Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. 20023658

2010

dbSNP: rs1873147
rs1873147
C 0.800 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734

2012