rs2235375, IRF6

N. diseases: 7
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 lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.020 0.500 2 2015 2018
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.020 0.500 2 2015 2018
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
158 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
Popliteal pterygium syndrome
CUI: C0265259
Disease: Popliteal pterygium syndrome
17 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2015 2015
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
Van der Woude syndrome
CUI: C0175697
Disease: Van der Woude syndrome
9 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2015 2015