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: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		Nervous System Diseases 0.700 0
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		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: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0002418
Disease: Amblyopia
Amblyopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
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: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		0.700 0
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
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: 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: C1862066
Disease: Branchial anomaly
Branchial anomaly 		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: 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
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: rs1554110673
rs1554110673 		1.000 0.040 6 10398417 stop lost T/C snv
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
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: 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: 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: rs1554111749
rs1554111749 		1.000 0.040 6 10404566 missense variant G/A 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: 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: 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