rs121918502, FGFR2

N. diseases: 9
Disease: Antley-Bixler Syndrome, Autosomal Dominant ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.800 CausalMutation CLINVAR