Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
FGFR3
0.010 GeneticVariation BEFREE We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families. 8742128

1996