EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: Small earlobe ×
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: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1842680
Disease: Small earlobe
Small earlobe 		0.700 0