Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.740 1.000 4 2004 2015
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.730 0.750 3 2009 2019
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.050 1.000 5 2005 2017
dbSNP: rs2235371
rs2235371
IRF6
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: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.030 1.000 3 2009 2019
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.030 0.667 3 2009 2019
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.010 1.000 1 2016 2016
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		0.010 1.000 1 2017 2017
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 1.000 1 2010 2010
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.010 1.000 1 2014 2014