Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913112
rs121913112
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs121913112
rs121913112
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
A 0.800 CausalMutation CLINVAR