Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918509
rs121918509
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
dbSNP: rs121918509
rs121918509
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs121918509
rs121918509
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
T 0.800 CausalMutation CLINVAR