Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908845
rs121908845
TP63
0.810 GeneticVariation BEFREE In addition, we evaluated the conformation and the interaction with Itch-WW2 of a site specific mutant of p63, I549T, that has been reported in both Hay-Wells syndrome and Rapp-Hodgkin syndrome. 20855944

2010
dbSNP: rs121908845
rs121908845
TP63
0.810 GeneticVariation UNIPROT Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 15200513

2004
dbSNP: rs121908845
rs121908845
TP63
0.810 GeneticVariation UNIPROT Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 12766194

2003
dbSNP: rs121908845
rs121908845
TP63
0.810 GeneticVariation UNIPROT The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 12939657

2003
dbSNP: rs121908845
rs121908845
TP63
C 0.810 CausalMutation CLINVAR