TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Coloboma of iris ×
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: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0