TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: OROFACIAL CLEFT 8 ×
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: rs121908847
rs121908847 		0.925 0.240 3 189868641 missense variant A/G snv
CUI: C1851878
Disease: OROFACIAL CLEFT 8
OROFACIAL CLEFT 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases 0.800 1.000 1 2006 2006
dbSNP: rs1560277554
rs1560277554 		1.000 0.120 3 189866732 frameshift variant -/CC delins
CUI: C1851878
Disease: OROFACIAL CLEFT 8
OROFACIAL CLEFT 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases 0.700 0