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: rs2235371
rs2235371 		0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.050 1.000 5 2005 2017
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: 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: rs1553247774
rs1553247774 		0.882 0.320 1 209790806 missense variant C/T snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 1.000 4 2002 2010
dbSNP: rs2235371
rs2235371 		0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.040 1.000 4 2004 2010
dbSNP: rs1553248641
rs1553248641 		0.882 0.320 1 209801389 missense variant G/A snv
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		0.700 1.000 3 2004 2017
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: 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: 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: 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
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: 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: 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: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
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: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		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: 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: 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: 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: 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
dbSNP: rs387906967
rs387906967 		0.925 0.320 1 209801349 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 0.800 1.000 4 2002 2010
dbSNP: rs387906968
rs387906968 		1.000 0.240 1 209788553 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 0.810 1.000 4 2002 2010