TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Disease: Congenital cerebral hernia ×
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: rs34396413
rs34396413 		0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019