rs78311289, FGFR3

N. diseases: 25
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)
0.710 GeneticVariation BEFREE Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009 2011
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
0.710 CausalMutation CLINVAR