IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: Van der Woude syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0175697
Disease:
Van der Woude syndrome 		0.010 GeneticVariation BEFREE Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 14618417 2003