Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease:
CATSHL syndrome
C 0.700 CausalMutation CLINVAR