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: rs2073485
rs2073485 		1.000 0.080 1 209789449 intron variant G/A snv 0.21
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 2 2010 2012
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: rs861020
rs861020 		1.000 0.080 1 209803766 intron variant A/G snv 0.82
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 2 2010 2012
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: rs59043219
rs59043219 		1.000 0.040 1 209797265 intron variant G/A snv 0.36
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs59043219
rs59043219 		1.000 0.040 1 209797265 intron variant G/A snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7555285
rs7555285 		1 209797010 intron variant G/C snv 0.81
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1553247595
rs1553247595 		0.882 0.320 1 209788590 stop gained G/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 5 2002 2015
dbSNP: rs1553247595
rs1553247595 		0.882 0.320 1 209788590 stop gained G/A snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 1.000 4 2002 2015
dbSNP: rs1553247595
rs1553247595 		0.882 0.320 1 209788590 stop gained G/A snv
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 0.700 1.000 4 2002 2015
dbSNP: rs121434224
rs121434224 		1.000 0.200 1 209796453 stop gained C/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121434225
rs121434225 		1.000 0.240 1 209789669 stop gained G/A snv
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 0.700 0
dbSNP: rs121434228
rs121434228 		1.000 0.200 1 209789709 stop gained C/T snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs397515434
rs397515434 		1.000 0.200 1 209801269 stop gained G/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553247774
rs1553247774 		0.882 0.320 1 209790806 missense variant C/T snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 10 2002 2010
dbSNP: rs121434229
rs121434229 		0.925 0.200 1 209801280 missense variant C/T snv 4.0E-06
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 8 2002 2009
dbSNP: rs121434230
rs121434230 		0.925 0.200 1 209788638 missense variant G/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 8 2002 2009
dbSNP: rs121434231
rs121434231 		0.925 0.320 1 209790539 missense variant C/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 8 2002 2009
dbSNP: rs28942093
rs28942093 		1.000 0.200 1 209801409 missense variant G/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 8 2002 2009
dbSNP: rs28942094
rs28942094 		0.851 0.400 1 209801398 missense variant G/A snv
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 8 2002 2009