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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.010 GeneticVariation BEFREE The detection of the R248C mutation in a proportion of blood leukocytes and a slight scoliosis suggest an EN syndrome. 21639936

2011