Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs861019
rs861019
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.010 GeneticVariation BEFREE The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively). 18209213

2008

dbSNP: rs861019
rs861019
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation BEFREE The same variants in the IRF6 gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019, P = 0.058; rs17015215-V274I, P = 0.0006; rs7802, P = 0.004). 17318851

2007