rs121913116, FGFR3

N. diseases: 9
Disease: Hypochondroplasia (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006