Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75790268
rs75790268
FGFR3
0.020 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
0.020 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