Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918505
rs121918505
FGFR2
0.710 GeneticVariation BEFREE Two additional patients; one with Apert syndrome and P253R mutation, the other with Pfeiffer syndrome and S267P mutation, also appeared to be homozygous. 11484208

2001
dbSNP: rs121918505
rs121918505
FGFR2
G 0.710 CausalMutation CLINVAR