rs121918505, FGFR2

N. diseases: 5
Disease: Pfeiffer Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.710 CausalMutation CLINVAR