Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676

2015
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 19749790

2009
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684

2007
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. 11879084

2002
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. 11038465

2000
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699

1995