Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913479
rs121913479
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.010 GeneticVariation BEFREE Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. 10587515

1999