EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: Clinodactyly of the 5th finger ×
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: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017