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: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 0
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: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		Eye Diseases 0.700 0
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: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
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: 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: 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: 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