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: 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: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System 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: 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: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		0.700 1.000 1 2015 2015
dbSNP: rs1554110735
rs1554110735 		0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
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: 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: 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: 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: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
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: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
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: 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1995 2015
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: 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: 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: 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: 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: 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: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 1.000 1 2015 2015
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: 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
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: 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