IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: Cleft Palate ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2235371
rs2235371 		0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.730 0.750 4 2009 2019
dbSNP: rs2013162
rs2013162 		0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235375
rs2235375 		0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018