TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Hay-Wells syndrome ×
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: rs113993963
rs113993963 		0.925 0.240 3 189789816 missense variant A/C snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993964
rs113993964 		1.000 0.200 3 189894305 frameshift variant C/- del
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993966
rs113993966 		0.925 0.240 3 189868596 missense variant C/G snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs113993967
rs113993967 		0.851 0.240 3 189868597 missense variant G/A snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121908842
rs121908842 		1.000 0.200 3 189890795 missense variant A/T snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2001 2001
dbSNP: rs121908843
rs121908843 		1.000 0.200 3 189890817 missense variant T/G snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2001 2001
dbSNP: rs121908845
rs121908845 		0.925 0.200 3 189889478 missense variant T/C snv
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.710 1.000 1 2010 2010
dbSNP: rs760026775
rs760026775 		1.000 0.200 3 189894389 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.020 1.000 2 2005 2012