Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908840
rs121908840
0.800 GeneticVariation UNIPROT Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 15200513

2004

dbSNP: rs121908840
rs121908840
0.800 GeneticVariation UNIPROT The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 12939657

2003

dbSNP: rs121908840
rs121908840
0.800 GeneticVariation UNIPROT Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 12766194

2003

dbSNP: rs121908840
rs121908840
A 0.800 CausalMutation CLINVAR