IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: Cleft upper lip ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2235371
rs2235371
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0008924
Disease:
Cleft upper lip 		C 0.740 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
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0008924
Disease:
Cleft upper lip 		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: rs2235371
rs2235371
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0008924
Disease:
Cleft upper lip 		0.740 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
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0008924
Disease:
Cleft upper lip 		0.740 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
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0008924
Disease:
Cleft upper lip 		0.740 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