Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2235371
rs2235371
IRF6
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 GeneticVariation BEFREE The genotype and allele frequencies of single nucleotide polymorphism rs2235371 in IRF6 showed significant differences in patients with cleft palate when compared to the controls, whereas no association was shown between rs642961, rs2236907, rs861019, and rs1044516 and non-syndromic orofacial clefts. 31495697

2019
dbSNP: rs2235371
rs2235371
IRF6
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		C 0.730 GeneticVariation GWASCAT Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. 25775280

2015
dbSNP: rs2235371
rs2235371
IRF6
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 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
IRF6
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 GeneticVariation BEFREE Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. 19115793

2009
dbSNP: rs41268753
rs41268753
GRHL3
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 GeneticVariation BEFREE Moreover, it is known that this SNP, as well as another variant, rs41268753 (p.T454M), are associated with nonsyndromic cleft palate and that rs41268753 negatively affects GRHL3 transcriptional activity. 29702134

2018
dbSNP: rs41268753
rs41268753
GRHL3
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 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: rs41268753
rs41268753
GRHL3
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 GeneticVariation BEFREE In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). 27018472

2016
dbSNP: rs41268753
rs41268753
GRHL3
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 GeneticVariation BEFREE The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. 27459192

2016
dbSNP: rs41268753
rs41268753
GRHL3
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		T 0.730 GeneticVariation GWASCAT In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). 27018472

2016
dbSNP: rs13041247
rs13041247
LOC102724968
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		T 0.710 GeneticVariation GWASCAT Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. 25775280

2015
dbSNP: rs13041247
rs13041247
LOC102724968
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.710 GeneticVariation BEFREE 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: rs10133673
rs10133673
SLC25A21
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		G 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs10242177
rs10242177
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 GeneticVariation GWASCAT Genomic analyses in African populations identify novel risk loci for cleft palate. 30452639

2019
dbSNP: rs1038294
rs1038294
COL8A1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		G 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs10462065
rs10462065
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs10512248
rs10512248
PTCH1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs10808812
rs10808812
ZFHX4-AS1 ; LOC107986952
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 GeneticVariation GWASCAT Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only. 28087736

2017
dbSNP: rs10886040
rs10886040
SHTN1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 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: rs11066150
rs11066150
NAA25
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		G 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs11072494
rs11072494
ARID3B
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 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: rs112800917
rs112800917
LOC105373887
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 GeneticVariation GWASCAT Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only. 28087736

2017
dbSNP: rs113691307
rs113691307
LOC102724542
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		C 0.700 GeneticVariation GWASCAT Genomic analyses in African populations identify novel risk loci for cleft palate. 30452639

2019
dbSNP: rs11582254
rs11582254
TMCO4
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		G 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
dbSNP: rs11597348
rs11597348
OPALIN
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 GeneticVariation GWASCAT Genomic analyses in African populations identify novel risk loci for cleft palate. 30452639

2019
dbSNP: rs117496742
rs117496742
YAP1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 GeneticVariation GWASCAT A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. 27018472

2016