TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Rudiger syndrome 1 ×
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: rs113993967
rs113993967 		0.851 0.240 3 189868597 missense variant G/A snv
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.020 1.000 2 2007 2018
dbSNP: rs1173679499
rs1173679499 		0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121908835
rs121908835 		0.882 0.240 3 189864379 missense variant C/T snv 7.0E-06
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121908836
rs121908836 		0.925 0.160 3 189864380 missense variant G/A snv 1.4E-05
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs765502786
rs765502786 		1.000 0.160 3 189869330 missense variant G/A snv 1.2E-05
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2001 2001