TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: SPLIT-HAND/FOOT MALFORMATION 4 ×
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: rs121908838
rs121908838 		1.000 0.080 3 189864349 missense variant A/G snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2000 2001
dbSNP: rs886039442
rs886039442 		0.925 0.160 3 189867906 missense variant G/A snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2000 2001
dbSNP: rs121908839
rs121908839 		0.925 0.160 3 189867905 missense variant C/T snv
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908848
rs121908848 		0.925 0.080 3 189738739 missense variant C/A;T snv 1.2E-05
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0