Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant
C 0.800 CausalMutation CLINVAR