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: 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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1995 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: rs121909574
rs121909574 		0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal 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: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		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: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		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: C1862066
Disease: Branchial anomaly
Branchial anomaly 		0.700 1.000 1 2015 2015
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: 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: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		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: 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: 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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: 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