Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928868
rs28928868
FGFR3
C 0.700 CausalMutation CLINVAR FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 20453470

2010
dbSNP: rs28928868
rs28928868
FGFR3
C 0.700 CausalMutation CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390

2008
dbSNP: rs28928868
rs28928868
FGFR3
C 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: rs28928868
rs28928868
FGFR3
C 0.700 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000