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: rs1044516
rs1044516 		1.000 0.080 1 209786269 3 prime UTR variant G/T snv 0.23
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1060499555
rs1060499555 		0.925 0.200 1 209801301 missense variant A/G 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: rs1060499555
rs1060499555 		0.925 0.200 1 209801301 missense variant A/G snv
CUI: C1861544
Disease: Lower lip pit
Lower lip pit 		0.700 0
dbSNP: rs1060499555
rs1060499555 		0.925 0.200 1 209801301 missense variant A/G snv
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
Cleft palate and bilateral cleft lip 		0.700 0
dbSNP: rs1185412313
rs1185412313 		0.925 0.200 1 209789740 missense variant A/G 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 0.700 0
dbSNP: rs1185412313
rs1185412313 		0.925 0.200 1 209789740 missense variant A/G snv 4.0E-06
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 0
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: rs121434226
rs121434226 		0.882 0.320 1 209796477 missense variant 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 0.800 1.000 7 2002 2014
dbSNP: rs121434226
rs121434226 		0.882 0.320 1 209796477 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 0.700 1.000 4 2008 2014
dbSNP: rs121434226
rs121434226 		0.882 0.320 1 209796477 missense variant G/A snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 1.000 4 2008 2014
dbSNP: rs121434227
rs121434227 		1.000 0.240 1 209796476 missense variant C/A;T 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 0.810 1.000 4 2002 2010
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: 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: 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: 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: 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: 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: rs121434231
rs121434231 		0.925 0.320 1 209790539 missense variant C/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: 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: rs1553247602
rs1553247602 		1.000 0.200 1 209788629 frameshift variant C/- delins
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: rs1553247774
rs1553247774 		0.882 0.320 1 209790806 missense variant C/T 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 2010