IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
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: rs121434229
rs121434229 		0.925 0.200 1 209801280 missense variant C/T snv 4.0E-06
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121434230
rs121434230 		0.925 0.200 1 209788638 missense variant G/A snv
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17015215
rs17015215 		1.000 1 209790735 missense variant C/T snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs2013162
rs2013162 		0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2013162
rs2013162 		0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 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: rs2013162
rs2013162 		0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235371
rs2235371 		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 		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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2235371
rs2235371 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2235371
rs2235371 		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 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2235371
rs2235371 		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: rs2235375
rs2235375 		0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015
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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
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: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015
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
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: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7552506
rs7552506 		0.925 0.240 1 209796557 splice region variant G/C snv 0.32 0.32
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7552506
rs7552506 		0.925 0.240 1 209796557 splice region variant G/C snv 0.32 0.32
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7802
rs7802 		1.000 1 209785814 3 prime UTR variant A/G snv 7.0E-04
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs861019
rs861019 		0.925 0.120 1 209802041 splice region variant A/G snv 0.44
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs861019
rs861019 		0.925 0.120 1 209802041 splice region variant A/G snv 0.44
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
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: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 0.500 2 2015 2018
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
dbSNP: rs2235371
rs2235371 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.030 1.000 3 2009 2019