Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1211533350
rs1211533350
FGFR3
0.010 GeneticVariation BEFREE Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. 19449430

2009