Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519901
rs1057519901
FGFR2
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		G 0.700 GeneticVariation CLINVAR Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 17525745

2007