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: rs1554112492
rs1554112492 		1.000 0.040 6 10409973 frameshift variant -/CCGTGCA delins
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs1554111734
rs1554111734 		1.000 0.040 6 10404559 missense variant A/G snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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: rs34396413
rs34396413 		0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02
CUI: C4551722
Disease: Encephalocele
Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs34396413
rs34396413 		0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
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: rs1554110994
rs1554110994 		1.000 0.040 6 10400584 missense variant C/G snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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
dbSNP: rs151344530
rs151344530 		0.925 0.040 6 10404511 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: rs151344525
rs151344525 		0.925 0.040 6 10404562 missense variant C/G;T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs151344530
rs151344530 		0.925 0.040 6 10404511 missense variant C/G;T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: rs1554111717
rs1554111717 		1.000 0.040 6 10404523 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554111751
rs1554111751 		1.000 0.040 6 10404575 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs267607108
rs267607108 		1.000 0.040 6 10400587 missense variant C/T snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs151344531
rs151344531 		0.925 0.120 6 10402608 missense variant G/A snv
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012