EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: Dysmorphic facies ×
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: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0