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: rs886039388
rs886039388 		0.882 0.320 1 209796501 missense variant G/A snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 1.000 3 2002 2014
dbSNP: rs886039388
rs886039388 		0.882 0.320 1 209796501 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 3 2002 2014
dbSNP: rs886039388
rs886039388 		0.882 0.320 1 209796501 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 1.000 3 2002 2014
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: 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: 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: rs1558038218
rs1558038218 		0.882 0.320 1 209788500 frameshift variant GGTACAGCTGC/- delins
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 1 2009 2009
dbSNP: rs1558038218
rs1558038218 		0.882 0.320 1 209788500 frameshift variant GGTACAGCTGC/- 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 1.000 1 2009 2009
dbSNP: rs1558038218
rs1558038218 		0.882 0.320 1 209788500 frameshift variant GGTACAGCTGC/- delins
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 1.000 1 2009 2009
dbSNP: rs2013162
rs2013162 		0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
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: 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: rs769068305
rs769068305 		1.000 0.200 1 209788614 missense variant C/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 1.000 1 2009 2009
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