Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		G 0.750 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		A 0.750 CausalMutation CLINVAR