Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation BEFREE Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. 22529939

2012
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284

2002
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation BEFREE We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia. 10979354

2000
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230

2000
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation BEFREE Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. 10587515

1999
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation BEFREE Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. 9199352

1997
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935

1996
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520

1995
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation BEFREE We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). 7758520

1995
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995
dbSNP: rs75790268
rs75790268
FGFR3
0.850 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994
dbSNP: rs75790268
rs75790268
FGFR3
T 0.850 CausalMutation CLINVAR