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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
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: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		Nervous System Diseases 0.700 0
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: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541 		0.807 0.120 6 10404631 missense variant A/T snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		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
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: 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: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C0263498
Disease: Premature canities
Premature canities 		0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C4022428
Disease: Unilateral conductive hearing impairment
Unilateral conductive hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs793888540
rs793888540 		0.851 0.080 6 10404623 missense variant G/T snv
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		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: 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: 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: rs151344525
rs151344525 		0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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