Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908843
rs121908843
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome
0.800 GeneticVariation UNIPROT Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 11159940

2001

dbSNP: rs121908843
rs121908843
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome
G 0.800 CausalMutation CLINVAR