Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918509
rs121918509
FGFR2
0.800 GeneticVariation UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630

2007
dbSNP: rs121918509
rs121918509
FGFR2
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
dbSNP: rs121918509
rs121918509
FGFR2
T 0.800 CausalMutation CLINVAR