Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913113
rs121913113
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.800 GeneticVariation UNIPROT A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
dbSNP: rs121913113
rs121913113
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		A 0.800 CausalMutation CLINVAR