Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913482
rs121913482
FGFR3
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0.010 GeneticVariation BEFREE Among the known mutations of this gene, the C742T (R248C) mutation is the most common one associated with type 1 TD. 20569165

2011