Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434

2012
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570

2011
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570

2011
dbSNP: rs28931615
rs28931615
FGFR3
A 0.700 CausalMutation CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014

2011
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: rs28931615
rs28931615
FGFR3
A 0.700 CausalMutation CLINVAR A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 20199409

2010
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: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 19088846

2008
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: rs28931615
rs28931615
FGFR3
A 0.700 CausalMutation CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668

2008
dbSNP: rs1057520044
rs1057520044
FGFR2
C 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
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: rs121918506
rs121918506
FGFR2
G 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs777169135
rs777169135
FGFR2
G 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs121913113
rs121913113
FGFR3
A 0.700 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
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: 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: rs28931615
rs28931615
FGFR3
A 0.700 CausalMutation CLINVAR Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 11426459

2001
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. 11754059

2001
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: 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
dbSNP: rs28933068
rs28933068
FGFR3
A 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
dbSNP: rs28933068
rs28933068
FGFR3
G 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
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR Achondroplasia-hypochondroplasia complex in a newborn infant. 10360392

1999
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 9452043

1998