Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519041
rs1057519041
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome
C 0.700 CausalMutation CLINVAR