rs2235371, IRF6

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.740 1.000 5 2004 2015
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.730 0.750 4 2009 2019
Cleft Lip with or without Cleft Palate
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
50 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.050 1.000 5 2005 2017
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.040 1.000 4 2004 2010
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.030 1.000 3 2009 2019
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.030 0.667 3 2009 2019
Agenesis
CUI: C0000846
Disease: Agenesis
44 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2007 2007
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2010 2010
Developmental reading disorder
CUI: C0920296
Disease: Developmental reading disorder
32 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2017 2017
Oral cleft
CUI: C4021813
Disease: Oral cleft
28 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2016 2016
Van der Woude syndrome
CUI: C0175697
Disease: Van der Woude syndrome
9 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2014 2014