rs104894195, AIP

N. diseases: 4
Disease: Gigantism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gigantism
CUI: C0017547
Disease: Gigantism
0.010 GeneticVariation BEFREE In two of them (a 9-year-old girl with gigantism and a young man with symptoms of GH excess since age 14) the c.910C>T (p.Arg304Ter), well-known truncating mutation was identified; in one of these two cases and her identical twin sister, the mutation proved to be a de novo event, since neither of their parents were found to be carriers. 27033541 2016