TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
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: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 0
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C4021230
Disease: Ectopic lacrimal punctum
Ectopic lacrimal punctum 		0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1995 2015
dbSNP: rs151344525
rs151344525 		0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1995 2015
dbSNP: rs151344530
rs151344530 		0.925 0.040 6 10404511 missense variant C/G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1995 2015
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		0.700 1.000 1 2015 2015
dbSNP: rs202002859
rs202002859 		6 10404649 missense variant T/C;G snv 1.6E-05 2.1E-05
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs34396413
rs34396413 		0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs758551492
rs758551492 		1.000 6 10406842 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2011 2011
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 3 2008 2015
dbSNP: rs121909575
rs121909575 		1.000 0.040 6 10402590 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2008 2008
dbSNP: rs151344528
rs151344528 		1.000 0.040 6 10404512 missense variant G/A;C snv 4.5E-06
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2008 2008
dbSNP: rs151344531
rs151344531 		0.925 0.120 6 10402608 missense variant G/A snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2012 2012
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015