EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: Mobius Syndrome ×
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: rs886040976
rs886040976 		1.000 0.120 10 129877827 missense variant T/C snv
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases 0.700 0