Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776587763
rs776587763
FGFR2
0.710 GeneticVariation BEFREE C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. 28849010

2017
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 26818779

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 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: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 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: rs121913105
rs121913105
FGFR3
0.710 GeneticVariation BEFREE Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis. 10377013

1999
dbSNP: rs121918487
rs121918487
FGFR2
G 0.710 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.710 CausalMutation CLINVAR

dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712

2017
dbSNP: rs121913113
rs121913113
FGFR3
A 0.700 CausalMutation CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183

2016
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676

2015
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015
dbSNP: rs786200952
rs786200952
KAT6A
CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 24476948

2014
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28933068
rs28933068
FGFR3
A 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28931615
rs28931615
FGFR3
A 0.700 CausalMutation CLINVAR Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. 23437153

2013
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
dbSNP: rs28933068
rs28933068
FGFR3
A 0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795

2012
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795

2012