IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: Cleft lip or lips ×
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: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.040 1.000 4 2004 2010
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: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.020 0.500 2 2015 2018