Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913116
rs121913116
FGFR3
T 0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006
dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation UNIPROT Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040

2001
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation UNIPROT Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation UNIPROT A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 9042914

1997