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: 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: 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: 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: 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: rs1553247877
rs1553247877 		1.000 0.200 1 209792277 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 0
dbSNP: rs1553248271
rs1553248271 		1.000 0.200 1 209796495 missense variant T/C 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: rs1553248635
rs1553248635 		1.000 0.200 1 209801294 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 0.700 0
dbSNP: rs200166664
rs200166664 		1.000 0.200 1 209788625 missense variant C/A;G;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: rs28942094
rs28942094 		0.851 0.400 1 209801398 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 0.700 0
dbSNP: rs28942094
rs28942094 		0.851 0.400 1 209801398 missense variant G/A snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28942094
rs28942094 		0.851 0.400 1 209801398 missense variant G/A snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		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: rs587776569
rs587776569 		1.000 0.200 1 209790667 protein altering variant GTCCAGCAGCTTGCTAGTG/T 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: rs781506407
rs781506407 		1.000 0.200 1 209790494 splice donor variant C/A;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: rs886038202
rs886038202 		1.000 0.240 1 209788508 missense variant A/G 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: 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: 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